cerulean cataract

Cerulean cataract is a type of hereditary congenital cataract distinguished by bluish and white opacifications in the superficial layers of the fetal lens nucleus and adult lens nucleus and characterized by reduced visual acuity in childhood, eventually necessitating extraction of the lens.


benign neoplasm of eye

biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:NamedThing biolink:ThingWithTaxon

A benign neoplasm that involves the eye.


Optic nerve gray crescent

biolink:PhenotypicFeature biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:NamedThing biolink:ThingWithTaxon

Having a characteristic appearance of a slate gray area of pigmentation within the disc margins that commonly appears along the inferotemporal or temporal neuroretinal rim areas.


Abnormality morphology of the macular vasculature

Any structural anomaly of the blood vessels of the macula.


Retinopathy

Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality.


Nodular changes affecting the eyelids

Nodular changes affecting the eyelids may have many different causes such as cystic lesions (chalaziae, hordeolae), lipogranulomas, melanomas, infectious diseases (Molluscum contagiosum) and many more.


Asymmetrical distribution of pattern reversal visual evoked potentials


Abnormality of binocular vision

An abnormality of binocular vision, that is of the ability to synthesize the visual inputs from both eyes to a single image with perception of depth.


Increased vertical cup-to-disc ratio - 0.7

Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.7 (The normal cup-to-disc ratio is 0.3).


Mild constriction of peripheral visual field

A diminution of the peripheral visual field whereby at least 50 degrees of central field are preserved in all meridians.


Retinal atrophy

Well-demarcated area(s) of partial or complete depigmentation in the fundus, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.


Anterior synechiae of the anterior chamber

Adhesions between the iris and the cornea.


Secondary esotropia

Convergent squint which follows loss or impairment of vision.


Parafoveal fixation

Fixation of an object in the area adjacent to the fovea.


Abnormal timing of flash visual evoked potentials


Schnyder corneal dystrophy

Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity.


Broad lateral eyebrow

Regional increase in the width (height) of the lateral eyebrow.


Congenital stationary cone dysfunction

Retinal phenotype characterised by cone photoreceptor dysfunction and preserved rod system. The abnormality is typically stationary or very slowly progressive and findings may include reduced central vision, colour vision abnormalities, nystagmus and photophobia.


Microcornea

A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood.


Dissociated horizontal deviation

A change in horizontal ocular alignment, unrelated to accommodation, that is brought about solely by a change in the balance of visual input from the two eyes.


morning glory syndrome

Morning glory syndrome (MGS) is an optic neuropathy characterized by a congenital funnel shaped excavation of the posterior fundus that incorporates the optic disk malformation (resembling the morning glory flower) MGS is usually unilateral and may result in a decrease in best-corrected visual acuity (BCVA). MGS either occurs isolated or associated to other ocular or non-ocular anomalies.


Abnormal P50/N95 ratio of pattern electroretinogram


Near esotropia

An intermittent esotropia where there is binocular single vision on distance fixation and esotropia at near even when the accommodation is relieved.


Abnormal static automated perimetry test


Foveal photoreceptor layer loss on macular OCT


Hypodeviation

A type of strabismus in which the visual axis of one eye is lower than that of the other.


Hyperdeviation

A type of strabismus in which the visual axis of one eye is higher than that of the other.


Exodeviation

A manifest or latent ocular deviation in which one or both eyes tends to deviate temporally.


Reduced number of corneal endothelial cells

A reduction in the number of corneal endothelial cells.


Increased vertical cup-to-disc ratio - 1.0

Ratio of the height of the cup of the optic nerve head to the height of the disc is 1.0 (The normal cup-to-disc ratio is 0.3).


Broad eyebrow

Regional increase in the width (height) of the eyebrow.


Beaten bronze macular sheen

A shiny appearance of the macula, which is often called a beaten bronze appearance.


posterior polymorphous corneal dystrophy 1

A posterior polymorphous corneal dystrophy that has material basis in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23.


Optic nerve tram-track sign

A tram-track sign is composed of two enhancing areas of tumor separated from each other by the negative defect of the optic nerve. It is seen on contrast-enhanced CT scan and MRI images, in optic nerve sheath meningioma. The sign helps distinguish between optic nerve sheath meningioma and optic glioma. Optic glioma arises from glial cells within the optic nerve and there is no clear separation between the nerve and the tumor; hence the tram-track sign is not seen in optic gliomas. Calcification may be seen in optic nerve sheath meningiomas in 20-50% of cases and hence the tram-track sign may be seen on nonenhanced CT scan images as a linear calcification around the nerve, but this is less common.


Central fundal arteriolar microaneurysms

Microscopic aneurysms of the retinal arterioles near the central part of the fundus, visible as small round dark red dots on the retinal surface (not arising from visible vessels) that are by definition less than the diameter of the major optic veins as they cross the optic disc.


Orbital schwannoma

A schwannoma (benign, usually encapsulated slow growing tumor composed of Schwann cells) located in the orbit.


exotropia

A form of strabismus in which the eyes are deviated laterally.


Abnormal chorioretinal morphology

An abnormality of the choroid and retina.


Persistent pupillary membrane

The presence of remnants of a fetal membrane that persist as strands of tissue crossing the pupil.


Rotary nystagmus

A form of nystagmus in which the eyeball makes rotary motions around the axis.


Decreased blink rate

The frequency with which the eye is blinked is below the lower limit of normal.


Abnormal confrontational visual field test


Dermolipoma of the conjunctiva

A benign tumor composed of adipose tissue and dense connective tissue usually located near the temporal fornix.


Herpetiform corneal ulceration

The presence of one or more dendritic corneal epithelial ulcers characterized by a treelike branching linear pattern with feathery edges and terminal bulbs. Herpetiform corneal ulcers can be identified by fluorescein staining.


Retinal pigment epithelial atrophy

Atrophy (loss or wasting) of the retinal pigment epithelium observed on fundoscopy or fundus imaging.


Asymmetrical distribution of flash visual evoked potentials


Prominent eyelashes

Eyelashes that draw the attention of the viewer due to increased density and/or length and/or curl without meeting the criteria of trichomegaly.


Reflex tearing

A form of watery eye associated with overproduction of tears due to reflex tearing in response to a local irritant (e.g. trichiasis or foreign body), chronic ocular surface disease (e.g. blepharitis) or systemic disease (e.g. thyroid eye disease).


panuveitis

A disorder characterized by inflammation of the entire uvea which includes the iris, ciliary body, and choroid. Causes include systemic infections, sarcoidosis, and cancers.


Abnormal inferior oblique muscle physiology

A functional anomaly of the inferior oblique muscle, an extraocular muscle that has its origin on the maxillary bone just posterior to the inferior medial orbital rim and lateral to the nasolacrimal canal and that is innervated by the inferior branch of the oculomotor nerve.


Abnormality of visual evoked potentials

An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex.


Axenfeld-Rieger syndrome

Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies.


Abnormal stereopsis

Inability to make fine depth discriminations from parallax provided by the two eyes' different positions on the head.


malignant ciliary body melanoma

A rare uveal melanoma that arises from the ciliary body. Patients may present with blurred vision, visual field loss, floaters, and ocular pain. The prognosis is usually poor.


Abnormal visual fixation

Any anomaly in the process of ocular fixation, which is the maintaining of the visual gaze on a single location.


Lateral rectus muscle underaction

Reduced movement of the lateral rectus muscle which improves on testing ductions, typically associated with neurogenic palsy.


coloboma of optic nerve

A cleft of the optic nerve that extends inferiorly.


persistent hyperplastic primary vitreous

A developmental ocular anomaly in which the primary vitreous body and its surrounding hyaloid vasculature failed to regress. It is usually unilateral and characterized by cataract; microphthalmos (small eyeballs), and retrolenticular fibrovascular tissue. (from Yanoff: Ophthalmology, 2nd ed.)


Corneal foreign body sensation

A perception that an object is in contact with the eye.


cyclotropia

A form of manifest strabismus (heterotropia) in which the one eye is wheel rotated so that the upper end of its vertical axis is nasal (incyclotropia) or temporal (excyclotropia).


Vestibular nystagmus

Nystagmus due to disturbance of the vestibular system; eye movements are rhythmic, with slow and fast components.


Microspherophakia

Lens of the eye is smaller than normal and spherically shaped.


Choriocapillaris atrophy

Atrophy of the capillary lamina of choroid.


Pseudopapilledema

Apparent optic disc swelling in the absence of increased intracranial pressure.


Abnormal amplitude of dark-adapted bright flash electroretinogram


Latent myopia

The difference between total and manifest myopia.


Impaired ocular adduction

Reduced ability to move the eye in the direction of the nose.


Sparse eyelashes

Decreased density/number of eyelashes.


Complete congenital stationary night blindness


Abnormal Descemet membrane morphology

Abnormality of Descemet's membrane, which is the basement membrane of the corneal endothelium.


achromatopsia

Achromatopsia (ACHM) is a rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function.


Peripheral fixation

Fixation of an object in a peripheral area of the retina.


Subhyaloid hemorrhage

A localized detachment of the vitreous from the retina due to the accumulation of blood. When localized in the macular area, it results in sudden profound loss of vision. Subhyaloid premacular hemorrhage is typically characterized by a circumscribed, round or dumb-bell shaped, bright red mound of blood beneath the internal limiting membrane (ILM) or between the ILM and hyaloid face, in or near to the central macular area.


Abnormal location of the eyebrow

Anomalous anatomical placement of the eyebrow.


coloboma of superior eyelid

Coloboma of superior eyelid is a rare developmental defect during embryogenesis characterized by a typically unilateral, partial or full-thickness, variably sized defect of the superior eyelid, ranging from a small notch to complete absence of the entire lid, which is commonly triangular in shape (with base at eyelid margin) and located on the medial third of the lid. It can occur isolated, associated with other anomalies (e.g. ocular/orbital and facial), or as part of a syndrome.


Hyperphoria

Tendency for the visual axis of one eye to be higher than that of the other.


Hyaloid vascular remnant and retrolental mass

A type of persistence of the hyaloid vascular system associated with a retrolental mass that may lead to fetal cataract.


Abnormal dark-adapted dim flash electroretinogram


Macular exudate

Yellow-white intraretinal deposits in the macula typically associated with damaged outer blood-retina barrier and exudation of serous fluid and lipids from the retinal microvasculature.


Absolute eccentric fixation

Eccentric fixation in which the angle of eccentricity equals the objective angle of deviation.


Abnormal conjunctiva morphology

An abnormality of the conjunctiva.


Cilioretinal artery occlusion

Blockage of the cilioretinal artery. The central retinal artery supplies the inner retina and the surface of the optic nerve. In some individuals, the cilioretinal artery, a branch of the ciliary circulation, may supply a portion of the retina including the macula. In cilioretinal artery occlusion, vision loss results from cell death in the inner retinal layers (mainly ganglion cells) despite relative sparing of the outer layers.


Hypermetric downward saccades

Overshoot of downward saccadic eye movements.


Chorioretinal lacunae

Punched out lesions in the pigmented layer of the retina.


Macular hyperpigmentation

Increased amount of pigmentation in the macula lutea.


Setting-sun eye phenomenon

An ophthalmologic sign in young children resulting from upward-gaze paresis. In this condition, the eyes appear driven downward, the sclera may be seen between the upper eyelid and the iris, and part of the lower pupil may be covered by the lower eyelid.


Microtropia without identity

A type of microtropia in which the manifest movement is demonstrated on the cover-uncover test.


Anterior chamber cells grade 0.5+

Anterior chamber cells with 1-5 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.


Abnormal pupil shape

A deviation from the normal circular shape of the pupil


Punctate cataract

A type of cataract with punctate opacities of the lens.


Mildly reduced contrast sensitivity

A mild reduction in the ability to perceive visual contrast characterized by 0.20-0.59 log unit contrast sensitivity loss.


ocular motor apraxia, Cogan type

Ocular motor apraxia, Cogan type is characterized by impairment of voluntary horizontal eye movements and compensatory head thrust. Around 50 cases have been described so far. The oculomotor manifestations tend to improve with age but the syndrome may also be associated with learning and speech difficulties, or, in some cases, cerebral malformations. Both sporadic and familial forms have been described, with sporadic forms being more frequent. The mode of transmission of the familial form has not yet been clearly established. A gene located on the long arm of chromosome 2, near to the NPHP1 gene involved in nephronophthisis, may be associated with ocular motor apraxia, Cogan type.


blue cone monochromacy

Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia.


Lower eyelid edema

Edema in the region of the Lower eyelid.


Sparse medial eyebrow

Decreased density/number and/or decreased diameter of medial eyebrow hairs.


Abnormal light-adapted single flash electroretinogram


Pigment deposition in the trabecular meshwork

Accumulation of abnormal amounts of pigment within the trabecular meshwork.


Constriction of peripheral visual field

An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye.


Distichiasis

Double rows of eyelashes.


red color blindness

Protanopia is a severe type of color vision deficiency caused by the complete absence of red retinal photoreceptors. Protans have difficulties distinguishing between blue and green colors and also between red and green colors. It is a form of dichromatism in which the subject can only perceive light wavelengths from 400 to 650 nm, instead of the usual 700 nm. Pure reds cannot be seen, instead appearing black; purple colors cannot be distinguished from blues; more orange-tinted reds may appear as very dim yellows, and all orange-yellow-green shades of too long a wavelength to stimulate the blue receptors appear as a similar yellow hue. It is hereditary, sex-linked, and present in 1% of males.


Absent smooth pursuit

A complete lack of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion.


cortical cataract

A cataract (disease) that involves the lens cortex.


Abnormal amplitude of pattern onset/offset visual evoked potentials


Retinal pigment epithelial loss on macular OCT


Oblique astigmatism

Astigmatism in which the refractive power of the vertical meridian is the greatest.


Hamartoma of the orbital region

A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the orbital region.


Unilateral microphthalmos

A developmental anomaly characterized by abnormal smallness of one eye.


Coralliform cataract

A 'coral-like' pattern of opacity in the lens of the eye. That is, a cataract with an irregular, stellate form.


angioid streaks

Small breaks in the elastin-filled tissue of the retina.


Retinopathy of prematurity stage 5

Funnel detachment from the retina with generally traction in all four quadrants.


Retinal thinning

Reduced anteroposterior thickness of the retina. This phenotype can be appreciated by retinal optical coherence tomography (OCT).


Posterior embryotoxon

A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe.


Peripheral tractional retinal detachment

Tractional retinal detachment at the periphery of the retina.


Abnormal morphology of the choroidal vasculature


Supranuclear ophthalmoplegia

A vertical gaze palsy with inability to direct the gaze of the eyes downwards.


Disciform macular scar

A subretinal scar with a disc-like shape in the region of the macula.


Macrosaccadic oscillations

A type of saccadic oscillations with brief periods of fixation between saccades (intersaccadic interval approximately 200 msec). Macrosaccadic oscillations (up to 40 degrees) straddle the intended fixation position and show a crescendo-decrescendo pattern.


Abnormal optic nerve morphology

Abnormality of the optic nerve.


Undetectable pattern electroretinogram

Absent response to a pattern electroretinogram (PERG).


Retinal cotton wool spot

Fluffy white patch on the retina, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels.


Abnormal optic chiasm morphology

A structural abnormality of the optic chiasm.The optic chiasm, located below the hypothalamus, is a partial crossing of the optic nerves.


Visual acuity light perception with projection


Recurrent external ophthalmoplegia

Alternating and recurrent weakness of the external ocular muscles.


Abnormal visual field test

Abnormal result of a test designed to test an individual's central and peripheral vision by determining the ability of the individual to perceive objects at differing locations of the visual field.


Retinal arteriolar constriction

Decreased retinal arteriolar diameters, which may decrease blood flow and slow oxygen delivery to regions of the retina.


telecanthus

Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.


Juvenile posterior subcapsular lenticular opacities


cataract 4 multiple types

Any cataract (disease) in which the cause of the disease is a mutation in the CRYGD gene.


congenital microcoria

Congenital microcoria is a rare autosomal dominant ophthalmological disease caused by maldevelopment of the dilator muscle of the pupil that is characterized by small pupils (<2 mm in diameter) from birth, peripheral iris hypopigmentation and transillumination defects leading to errors of refraction (myopia, astigmatism) and sometimes juvenile open angle glaucoma.


Microcoria

A small pupil (typically diameter less than 2 mm) that dilates poorly or not at all in response to topically administered mydriatic drugs.


Abnormal lateral rectus muscle physiology

A functional anomaly of the lateral rectus muscle.


Subfoveal choroidal neovascularization

A type of choroidal neovascularization in which the area of neovascularization overlaps with the center of the fovea.


stenosis of lacrimal punctum

Punctal stenosis is a condition in which the external opening of the lacrimal canaliculus is narrowed or occluded.


Polar cataract

A type of Congenital cataract in which the opacities occupy the subcapsular cortex at the anterior or posterior pole of the lens.


Abnormality of the extraocular muscles

An abnormality of an extraocular muscle.


Decreased Arden ratio of electrooculogram

An abnormal reduction in the Arden ratio, which is the ratio between the light peak and the dark trough of the smoothed (physiologic) EOG record.


Mildly reduced visual acuity

Mild reduction of the ability to see defined as visual acuity less than 6/12 (20/40 in US notation; 0.5 in decimal notation) but at least 6/18 (20/63 in US notation; 0.32 in decimal notation).


Abnormal cornea morphology

Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber.


Coronary cataract

A type of cataract characterised by club-shaped and dot opacities distributed radially in the deep cortex. These lens opacities surround the nucleus in an appearance that is though to resemble a crown.


Lester's sign

A zone of darker pigmentation around the central part of the iris with a roughly cloverleaf or flower shape.


Optic nerve misrouting

Abnormal decussation of the visual pathways, typically identified using visual evoked potentials (VEP) (asymmetrical distribution of the VEP over the posterior scalp).


Abnormality of ocular smooth pursuit

An abnormality of eye movement characterized by impaired smooth-pursuit eye movements.


Abnormal morphology of the conjunctival vasculature

Any abnormality of the blood vessels of the conjunctiva.


Spontaneous lens capsule rupture

Breakage of the capsule of the lens. This is most often observed as a complication of lens surgery, but this term refers to lens capsule rupture not related to surgery or major trauma.


Spherophakia

Spherophakia is a rare congenital condition that presents with weak zonules around a smaller and more spherical crystalline lens with an increased anteroposterior thickness of the lens, and highly myopic eye. The lens zonules are developmentally hypoplastic and abnormally weak and due to non-attachment of the posterior zonules to the equatorial zone of the lens, the lens changes its normal shape to spherical.


Latent hypermetropia

A term to describe when farsightedness is masked when the accommodative muscles are used to increase the focusing power of the eye.


Abnormality of corneal size

Any abnormality of the size or morphology of the cornea.


Peripapillary chorioretinal atrophy

Chorioretinal atrophy concentrated around the optic papilla (i.e., the optic nerve head).


Eyelid retraction

With the eyes in primary position, the sclera is visible above the superior corneal limbus.


Compensatory face turn to the right

A tendency to turn the face to the right to compensate for a limitation of eye movement.


Slowed horizontal saccades

An abnormally slow velocity of horizontal saccadic eye movements.


Chronic irritative conjunctivitis

A chronic irritative conjunctivitis, which commonly presents with general irritation and redness of the eyes, with a burning, dry, or foreign-body sensation of the eyes.


Progressive ptosis

A progressive form of ptosis.


Achromatic retinal patches

Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disc diameter in size and tending to be located in the midperiphery of the retina.


Abnormal vertical rectus muscle physiology

A functional anomaly of the superior or inferior rectus muscle.


Retinopathy of prematurity stage 4b

A detachment that involves the peripheral retina that involves the macula itself. The detachment usually starts in the temporal periphery although can also involve the nasal retina as well.


Leakage of dye on fundus fluorescein angiography

Leakage of fluorescein dye observed upon retinal fluorescein angiography. Areas of leakage can be appreciated as showing gradual enlargement with blurring of margins.


Transient unilateral blurring of vision

Transient blurring of vision associated with the aura phase of migraine.


Increased corneal curvature

An increase in the degree of curvature of the cornea compared to normal.


Decreased corneal thickness

A decreased anteroposterior thickness of the cornea.


Progressive cataract

A kind of cataract that progresses with age.


Moderate constriction of peripheral visual field

Peripheral visual field constriction with 20-49 degrees binocular visual field preserved.


dacryocystocele

A congenital or acquired mucocele that develops in the lacrimal sac. It is usually the result of nasolacrimal duct abnormalities or obstruction.


Retinal vascular tortuosity

The presence of an increased number of twists and turns of the retinal blood vessels.


primary congenital glaucoma

Primary congenital glaucoma (PCG) is characterized by elevated intraocular pressure (IOP), enlargement of the globe (buphthalmos), edema, and opacification of the cornea with rupture of Descemet's membrane (Haab's striae), thinning of the anterior sclera and iris atrophy, anomalously deep anterior chamber, and structurally normal posterior segment except for progressive glaucomatous optic atrophy. Symptoms include photophobia, blepharospasm, and excessive tearing. Typically, the diagnosis is made in the first year of life. Depending on when treatment is instituted, visual acuity may be reduced and/or visual fields may be restricted. In untreated individuals, blindness invariably occurs.


Abnormal eyebrow morphology

An abnormality of the eyebrow.


Impaired convergence

Reduced ability to turn the eyes inward in order to focus on a nearby object.


Undetectable electroretinogram

Lack of any response to stimulation upon electroretinography.


Abnormal saccadic eye movements

An abnormality of eye movement characterized by impairment of fast (saccadic) eye movements.


Reduced visual accommodation

A decreased ability of the eye to adjust and thereby enable sharp vision of objects at different distances.


Sparse lateral eyebrow

Decreased density/number and/or decreased diameter of lateral eyebrow hairs.


Cherry red spot of the macula

Pallor of the perifoveal macula of the retina with appearance of a small circular reddish choroid shape as seen through the fovea centralis due to relative transparancy of the macula.


Conjunctival nodule

Presence of nodules in the conjunctiva of the eye.


Pigmentary retinopathy

An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.


Superior rectus muscle underaction

Reduced movement of the superior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy.


Chorioretinal atrophy

Atrophy of the choroid and retinal layers of the fundus.


Severely reduced contrast sensitivity

A severe reduction in the ability to perceive visual contrast characterized by 1.00 log unit or more contrast sensitivity loss.


hordeolum externum

A hordeolum that results from obstruction and infection of an eyelash follicle and adjacent glands of Zeis or Moll glands. Follicle obstruction may be associated with blepharitis.


Paroxysmal involuntary eye movements

Sudden-onset episode of abnormal, involuntary eye movements.


Membranous vitreous appearance

Vitreous humor of the eye displaying consisting of a vestigial gel in the retrolental space bounded by a convoluted membrane.


Beaded vitreous appearance

Vitreous humor of the eye displaying beaded bundles of irregular diameters.


Anterior chamber flare grade 2+

Moderate anterior chamber flare (iris and lens details clear).


coloboma of iris

A congenital or acquired defect characterized by the presence of a hole in or adjacent to the iris.


Nystagmus-induced head nodding

Head movements associated with nystagmus, that may represent an attempt to compensate for the involuntary eye movements and to improve vision.


Hyperautofluorescent macular lesion

Increased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging.


Sutural cataract

A type of congenital cataract in which the opacity follows the anterior or posterior Y suture.


Scleral staphyloma

A staphyloma is a localized defect in the eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure.


Abnormal fundus fluorescein angiography

An abnormality observed by retinal fluorescein angiography, which involves the intravenous injection of fluorescein dye followed by fluorescent imaging of the fundus immediately after injection and for up to ten minutes thereafter. It can be used to study various retinal abnormalities including especially anomalies of the choroidal and retinal circulation.


Congenital horizontal nystagmus

Horizontal nystagmus dating from or present at birth.


corneal granular dystrophy

A stromal corneal dystrophy that is caused by mutation(s) in the TGFBI gene.


Upbeat nystagmus

In primary position, the eyes drift slowly downward and then spontaneously beat upward. Upward gaze accentuates the nystagmus. The associated oscillopsias are often very irritating, but the symptoms are usually transient.


Decreased corneal sensation

Reduced ability of the cornea to respond to stimulation.


Globe retraction and deviation on abduction


Slow saccadic eye movements

An abnormally slow velocity of the saccadic eye movements.


Absent eyelashes

Lack of eyelashes.


Posterior retinal neovascularization

A type of retinal neovascularization that affects the posterior pole of the retina.


Abnormality of ocular abduction

An abnormality involving the movement of the eye outwards.


Ocular flutter

Ocular flutter is an abnormal eye movement consisting of repetitive, irregular, involuntary bursts of horizontal saccades without an intersaccadic interval. It is generally superimposed on normal oculomotor behaviour and its occurrence may be favoured by various events, such as blinks, the triggering of normal saccades or optokinetic stimulation.


hyperopia, high

A severe form of hypermetropia with over +5.00 diopters.


Subretinal exudate

A type of retinal exudate located in the subretinal space between the sensory retina and the retinal pigment epithelium.


Marcus Gunn pupil

An aberrant pupillary response characterized by (i) Constriction of pupils of both eyes when the light stimulus is applied to the normal eye, and (ii) Dilatation of pupils of both eyes when the light stimulus is rapidly transferred from the normal eye (after brief light exposure to the normal eye) to the affected eye.


Deep anterior chamber

Increased depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is increased.


Subretinal deposits

Deposits accumulating between the outer retina and the retinal pigment epithelium.


Fully accomodative esotropia

Esotropia in which normal binocular single vision is present for all distances when the hypermetropic refractive error is corrected. Esotropia is present for near and distance on accommodation without correction.


Incomplete congenital stationary night blindness


coloboma of inferior eyelid

Coloboma of inferior eyelid is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral, partial or full-thickness, variably sized defect of the inferior eyelid (ranging from a small notch to complete absence of the entire lid) which is usually triangular in shape (with base at eyelid margin) and located on the lateral third of the lid. It can occur isolated, associated with facial clefting or as part of a syndrome.


Moderately reduced contrast sensitivity

A moderate reduction in the ability to perceive visual contrast characterized by 0.60-0.99 log unit contrast sensitivity loss.


blue color blindness

Tritanopia is an extremely rare form of color blindness characterized by a selective deficiency of blue vision.


Saccadic smooth pursuit

An abnormality of tracking eye movements in which smooth pursuit is interrupted by an abnormally high number of saccadic movements.


Ring scotoma

An annular field defect centered on fixation.


Presenile cataracts

Presenile cataract is a kind of cataract that occurs in early adulthood, that is, at an age that is younger than usual.


Retinopathy of prematurity stage 3

The neovascularization accumulates at the edge of the vascularized retina and extends into the vitreous (also called extra retinal fibrosis proliferation). In cases of Zone 2 and Zone 3, this may be sausage shaped. In more posterior Zone 1 disease, the stage 3 can appear as a direct extension of the normal retinal vessels but extending tangentially over the avascular retina.


True anophthalmia

Absence of globe, optic nerve, chiasm and optic tracts. No evidence of ocular tissue on MRI scan or examination.


Sectoral retinitis pigmentosa

A variant of retinitis pigmentosa in which there is a regional distribution of the retinal degeneration.


Abnormal retinal nerve fiber layer morphology

A structural abnormality of the retinal nerve fiber layer


Double depressor palsy

An ocular movement abnormality characterised by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye.


Amyloid deposition in the vitreous humor

Deposition of hyaline extracellular material (amyloid) into the vitreous humor, which can manifest as vitreous opacities and reduced visual acuity.


Anterior chamber cells grade 1+

Anterior chamber cells with 6-15 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.


Unilateral ptosis

A unilateral form of ptosis.


Retinopathy of prematurity pre-plus

As vascular abnormalities of the posterior pole that are insufficient for the diagnosis of plus disease but that demonstrate more arterial tortuosity and more venous dilatation than normal.


Increased tear production

Increased lacrimation owing to overproduction of tears.


Asymmetry of iris pigmentation

Asymmetry between the two irides or asymmetry between different parts of one iris.


Abnormal Humphrey SITA 10-2 perimetry test


congenital Horner syndrome

Congenital Horner syndrome is a rare neurological disorder characterized by relative pupillary miosis and blepharoptosis, evident at birth, caused by interruption of the oculosympathetic innervation at any point along the neural pathway from the hypothalamus to the orbit. Often additional symptoms, such as enophthalmos, facial anhidrosis, iris heterochromia, conjunctival congestion, transient hypotonia and/or pupillary dilation lag, may be present. Association with birth trauma, neoplasms or vascular malformations has been reported.


iris melanoma

A uveal melanoma that arises from the iris. It is the most common primary malignant neoplasm of the iris. The majority arise in preexisting nevi.


Anterior chamber flare grade 3+

Marked anterior chamber flare (iris and lens details hazy).


Hypoplasia of the iris dilator muscle

Underdevelopment of the dilatator pupillae.


Thinning of Descemet membrane

A reduction in the thickness of Descemet's membrane.


Abnormal electrooculogram

The clinical electro-oculogram (EOG) is an electrophysiological test of function of the outer retina and retinal pigment epithelium (RPE) in which changes in electrical potential across the RPE are recorded during successive periods of dark and light adaptation.


Broad medial eyebrow

Regional increase in the width (height) of the middle portion of the eyebrow.


senile entropion

An abnormal inversion of the eyelid towards the globe resulting from inferior retractor muscle dysfunction with tissue laxity and, possibly, overriding of the preseptal orbicularis muscle over the pretarsal orbicularis muscle.


Epicanthus inversus

A fold of skin starting at or just below the medial aspect of the lower lid and arching upward to cover, extend in front of and lateral to the medial canthus.


Lenticonus

A conical projection of the anterior or posterior surface of the lens, occurring as a developmental anomaly.


Hemolacria

The presence of blood in tears.


Iris nodule

The presence of a nodule (small rounded lump of tissue) in the iris.


Consecutive esotropia

Esotropia in a patient who has previously had exotropia or exophoria; may be constant or intermittent and usually follows surgical overcorrection.


vitelliform macular dystrophy

A rare genetic disorder characterized by macular degeneration in the retina resulting in progressive loss of central vision with retention of the peripheral vision.


Downgaze palsy

A limitation of the ability to direct one's gaze below the horizontal meridian.


Epicanthus

A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.


lacrimal duct obstruction

Blockage of the tear duct.


Weakness of orbicularis oculi muscle

Reduced strength of the orbicularis oculi, the circumorbital muscle in the face that closes the eyelid.


Absent foveal reflex

Lack of the foveal reflex, which normally occurs as a result of the reflection of light from the ophthalmoscope in the foveal pit upon examination. The foveal reflex is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope.


Abnormal superior rectus muscle physiology

A functional anomaly of the superior rectus muscle, an extraocular muscle that is innervated by the superior division of the oculomotor nerve, and whose primary function is the elevation of the globe.


Compensatory head posture

A compensatory head posture occurs when the head is deviated out of the normal primary straight head position in order to compensate for an ocular problem.


combined hamartoma of the retina and retinal pigment epithelium

A retinal hamartoma that involves cellular elements of both the retina and the retinal pigment epithelium. (WHO 2018)


Meesmann corneal dystrophy

Meesmann corneal dystrophy (MECD) is a rare form of superficial corneal dystrophy characterized by distinct tiny bubble-like, round-to-oval punctate bilateral opacities in the central corneal epithelium, and to a lesser extent in the peripheral cornea, with little impact on vision.


Fundus hemorrhage

Bleeding within the fundus of the eye.


Decreased light- and dark-adapted electroretinogram amplitude

Descreased amplitude of eletrical response upon electroretinography.


Staring gaze

An abnormality in which the eyes are held permanently wide open.


Superior oblique muscle underaction

Reduced ocular movement of the superior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy.


Visual loss

Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).


Extension of eyebrows towards upper eyelid

The eyebrows extend towards - or even all the way down to - the margin of the upper eyelid.


epiblepharon

Redundant eyelid skin pressing the eyelashes against the cornea and/or conjunctiva.


benign concentric annular macular dystrophy

Benign concentric annular macular dystrophy (BCAMD) is a progressive autosomal dominant macular dystrophy characterized by parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bullBs eye configuration.


Lateral rectus muscle overaction

Excessive action of the lateral rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist.


Purulent eye discharge

Secretion of pus-like (purulent) material from the eye, which may caused the eyelids to be matted together.


blepharophimosis

The abnormal narrowness of the palpebral fissure in the horizontal direction caused by the lateral displacement of the medial canthi of the eyelids. (Dorland, 27th ed)


Abnormality of macular pigmentation

Abnormality of macular or foveal pigmentation.


Macular microaneurysm/hemorrhage

Small, red dots in the superficial retinal layers (it is difficult to distinguish between small hemorrhages and microaneurysms).


Moderate myopia

A moderate form of myopia with refractive error of between -3.00 and -6.00 diopters.


Monocular strabismus

A type of strabismus in which the fixating eye is always the same one, while the other eye is constantly deviated. Monocular strabismus is to be distinguished from alternating strabismus, in which either of the eyes 'squints' at different times.


Abnormal corneal stroma morphology

An abnormality of the stroma of cornea, also known as the substantia propria of cornea.


Inferior oblique muscle underaction

Reduced ocular movement by the inferior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy.


cicatricial ectropion

An outward turning (eversion) or rotation of the eyelid margin (i.e., ectropion) caused by shortening or contraction of the anterior or middle lamellae related to scarring.


Abnormal retinal vascular morphology

A structural abnormality of retinal vasculature.


Progressive visual loss

A reduction of previously attained ability to see.


Corneal guttata

Corneal guttata are droplet-like accumulations of non-banded collagen on the posterior surface of Descemet's membrane. The presence of focal thickenings of Descemet's membrane histologically named guttae. Cornea guttata can be easily diagnosed in vivo and ex vivo by means of specular microscopy as it gives dark areas where no endothelial cells are visible.


Macular drusen

Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye. This class refers to the presence of Drusen in the macula.


Peters anomaly

Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane.


Foveal hyporeflective spaces on macular OCT


Cyst of the eyelid

Localized swelling of the eyelid due to blockage of the meibomian glands, usually caused by inflammation.


Difficulty adjusting to changes in luminance


Retinal hamartoma

A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina.


Retinopathy of prematurity stage 2

The accumulating neovascularization thickens and manifests as a linear bump. The neovascularization remains along the surface of the retina and does not extend off the retina into the cortical vitreous.


Nummular pigmentation of the fundus

Clumped pigmentary changes of nummular appearance (i.e., thought to resemble the shape of a coin or multiple coins stuck together) at the level of the retinal pigment epithelium.


Abnormal amplitude of light-adapted single flash electroretinogram


Macrosquare-wave jerks

Horizontal 10-40 degree excursions from fixation and back again.


Foveal intraretinal hyporeflective spaces on macular OCT


Pseudoglioma

A circumscribed whitish-yellow mass in the posterior chamber associated with retinal folds and sometimes retinal detachment and is said to resemble a retinal glioma.


Severe photosensitivity

A severe degree of photosensitivity of the skin.


Esodeviation

A manifest or latent ocular deviation in which one or both eyes tends to deviate nasally.


hypertropia

Vertical strabismus in which there is permanent upward deviation of the visual axis of one eye.


Horizontal eyebrow

An eyebrow that extends straight across the brow, without curve.


Phakodonesis

Tremulousness (trembling) of the lens of the eye.


Abnormality of lens shape

An abnormal shape of the lens.


Posterior corneal stroma punctiform multicolored opacities

Thin, punctiform elements of various colors in the posterior stroma of the cornea, immediately anterior to Descemet membrane. The elements are visible to direct and indirect illumination.


Sensory exotropia

A type of divergent strabismus (exotropia) that develops in a poorly seeing eye.


central serous chorioretinopathy

Central serous chorioretinopathy is a disease that causes fluid to build up under the retina, the back part of the inner eye that sends sight information to the brain. The fluid leaks from thechoroid (theblood vessel layer under the retina). The cause of this condition is unknown but stress can be a risk factor. Signs and symptoms include dim and blurred blind spot in the center of vision, distortion of straight linesand seeingobjectsas smaller or farther away. Many cases of central serous chorioretinopathy improve without treatment after 1-2 months. Laser treatment may be an option for other individuals.


Microphakia

Abnormal smallness of the lens.


Abnormality of chorioretinal pigmentation


internuclear ophthalmoplegia

An abnormality of conjugate lateral gaze in which the affected eye shows impairment of adduction. The pathognomonic clinical sign of internuclear ophthalmoplegia is an impaired adduction while testing horizontal saccades on the side of the lesion in the ipsilateral medial longitudinal fascicule.


Abnormal eyelid morphology

An abnormality of the eyelids.


ectopia pupillae

A malposition of the pupil owing to a developmental defect of the iris.


Abnormal light-adapted flicker electroretinogram


Retinopathy of prematurity plus

Venous dilatation and arteriolar tortuosity of the posterior retinal vessels and may later increase in severity to include iris vascular engorgement, poor pupillary dilatation (rigid pupil), and vitreous haze. This definition has been further refined in the later clinical trials in which the diagnosis of plus disease could be made if sufficient vascular dilatation and tortuosity are present in at least 2 quadrants of the eye.


Aplasia/Hypoplasia affecting the anterior segment of the eye

Absence or underdevelopment of the anterior segment of the eye.


Nongranulomatous uveitis

A form of uveitis that is not associated with the formation of granulomas.


Gustatory lacrimation

Gustatory lacrimation results from an aberrant innervation of fibres from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal.


Anterior blepharitis

A type of blepharitis that affects the eyelid skin, base of the eyelashes, and the eyelash follicles.


cataract 2, multiple types

Any cataract in which the cause of the disease is a mutation in the CRYGC gene.


Optic atrophy from cranial nerve compression


Sub-inner limiting membrane hemorrhage

A type of intraretinal hemorrhage that is located in the superficial retina between the inner limiting membrane and the retinal nerve fiber layer.


Aplasia/Hypoplasia of the eyebrow

Absence or underdevelopment of the eyebrow.


Visual acuity light perception without projection


Preretinal hemorrhage

An accumulation of blood between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation.


Alternating hypophoria

A type of vertical phoria in which, in dissociation, the occluded eye deviates downwards.


With the rule astigmatism

Refractive error in which the vertical meridian is relatively hypermetropic and the horizontal meridian is relatively myopic (or ocular astigmatism in which the refractive power of the horizontal meridian is the greatest).


Subretinal hemorrhage

Accumulation of blood located beneath the neurosensory retina in the space between the neurosensory retina and the retinal pigment epithelium.


Foveal retinal pigment epithelial loss on macular OCT


Moderately reduced visual acuity

Moderate reduction of the ability to see defined as visual acuity less than 6/18 (20/60 in US notation; 0.5 in decimal notation) but at least 6/60 (20/200 in US notation; 0.1 in decimal notation).


Developmental cataract

A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.


Ciliary body coloboma

A coloboma of the ciliary body.


Duane retraction syndrome

Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia.


Ultra-low vision with retained light projection

Ultra-low vision but with retained ability to perceive the difference between light and dark. Also when light is projected in each of the four quadrants of the visual field, the individual is able to correctly identify the origin of the light stimulus.


Mild hypermetropia

A form of hypermetropia with not more than +2.00 diopters.


Conjunctival papillae

Raised tissue masses located on the palpebral conjunctiva with a central vessel. Papillae are created by a focal infiltration of inflammatory cells.


Centrocecal scotoma

A scotoma (area of diminished vision within the visual field) located between the central point of fixation and the blind spot with a roughly horizontal oval shape.


Absent corneal reflex

Absence of the corneal blinking reflex, which normally induces involuntary blinking of the eyelids following contact of the cornea. The corneal blink reflex is caused by a loop between the trigeminal sensory nerves and the facial motor (VII) nerve innervation of the orbicularis oculi muscles.


Macular schisis

Splitting of the retina in the macular region.


congenital fibrosis of extraocular muscles

Congenital non-progressive ophthalmoplegia with multiple extraocular muscle restrictions. Typically, there is ptosis and variable degrees of restriction of horizontal and vertical eye movements.


choroideremia

Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina.


Abnormal timing of pattern electroretinogram


optic disk drusen

Optic disk bodies composed primarily of acid mucopolysaccharides that may produce pseudopapilledema (elevation of the optic disk without associated intracranial hypertension) and visual field deficits. Drusen may also occur in the retina (see retinal drusen). (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p355)


anisocoria

Unequal pupil size, which may represent a benign physiologic variant or a manifestation of disease. Pathologic anisocoria reflects an abnormality in the musculature of the iris (iris diseases) or in the parasympathetic or sympathetic pathways that innervate the pupil. Physiologic anisocoria refers to an asymmetry of pupil diameter, usually less than 2mm, that is not associated with disease.


staphyloma posticum

A localized defect in the posterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure.


Bone spicule pigmentation of the retina

Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone).


coloboma of choroid and retina

Coloboma of choroid and retina is a rare, genetic developmental defect during embryogenesis characterized by the partial absence of retinal pigment epithelium and choroid, most frequently located in the inferonasal quadrant. Patients usually present reduced vision and have an increased risk for retinal detachment. Other ocular anomalies (e.g. coloboma of iris, microcornea, nystagmus, strabismus, microphthalmos) are usually associated, however it may also be isolated.


Conjunctival membrane

Formation of a sheet of tissue by coagulum of exudate over the conjunctiva of the eye that if removed leaves behind a denuded bleeding surface.


Iris flocculi

Multiple cysts along the pupillary margin that appear as spherical or tear-drop-shaped pigmented lesions or wrinkled masses emerging from the pupillary border of the iris.


xanthoma

A non-neoplastic disorder characterized by a localized collection of histiocytes containing lipid. Xanthomas usually occur in the skin and subcutaneous tissues, but occasionally they may involve the deep soft tissues.


Central retinal vessel vascular tortuosity

The presence of an increased number of twists and turns of retinal blood vessels (arteries, arterioles, veins, venules).


Hamartoma of the eye

A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the eye.


Nonprogressive restrictive external ophthalmoplegia

Nonprogressive restriction of movement of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited.


Abnormal oblique muscle physiology

A functional anomaly of the inferior or superior oblique muscle.


Conjunctival icterus

Conjunctival icterus is a condition where there is yellowing of the whites of the eyes. This is most commonly seen in patients who have liver disease.


Anterior chamber red blood cells

The presence of erythrocyte in the aqueous humor of the anterior chamber of the eye.


Capsular cataract

A cataract that affects the capsule of the lens.


Retinal dysplasia

The presence of developmental dysplasia of the retina.


Retinopathy of prematurity stage 4

Scar tissue that forms a continuous sheet coming up from the edge of the vascularized retina. This scar tissue can grow toward the vitreous base/posterior lens capsule resulting in traction, distortion, and even detachment.


Abnormal electroretinogram

Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography.


Severely reduced visual acuity

Severe reduction of the ability to see defined as visual acuity less than 6/60 (20/200 in US notation; 0.1 in decimal notation) but at least 3/60 (20/400 in US notation; 0.05 in decimal notation).


Macular cotton wool spot

Fluffy white patch on the macula, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels.


Hypoautofluorescent macular lesion

Decreased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging.


Iris hypoperfusion

Reduction in the amount of blood flow to the iris.


Ocular melanocytosis

A congenital lesion of the sclera characterized by unilateral patchy but extensive slate-gray or bluish discoloration of the sclera . The conjunctiva are spared.


Ophthalmic artery occlusion

A partial or complete obstruction of the ophthalmic artery (branch of the internal carotid artery) that may lead to severe ischemia of the affected globe and associated ocular tissues. It can present with a similar picture to central retinal artery occlusion; however, profound choroidal ischaemia also occurs.


branch retinal artery occlusion

An occlusion of a branch of the retinal artery.


Anterior chamber flare grade 1+

Faint anterior chamber flare.


coloboma of eyelid

A congenital abnormality in which a part of the upper or lower eyelid tissue is missing.


Congenital blindness

Blindness with onset at birth.


Hyperopic astigmatism

A form of astigmatism in which one meridian is hyperopic while the one at a right angle to it has no refractive error.


Increased vertical cup-to-disc ratio

An abnormal increase in the ratio of the height of the cup of the optic nerve head to the height of the disc.


Constant exotropia

A form of divergent strabismus (exotropia) in which the eye turns outward at all distances and at all times.


Hypometric horizontal saccades

Saccadic undershoot of horizontal saccadic eye movements, i.e., a horizontal saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object.


Retinal dots

Yellow, white or greyish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size.


A type of choroidal neovascularization in which the nearest edge of the area of neovascularization is located 1 to 199 micrometers from the center of the fovea.


Visual gaze preference

An abnormality of gaze that can be observed following an acute supranuclear cerebral lesion (e.g., stroke) that is characterized by an acute inability to direct gaze contralateral to the side of the lesion and is accompanied by a tendency for tonic deviation of the eyes toward the side of the lesion.


Dysmetric vertical saccades

Inaccurate saccades (rapid movement of the eye between fixation points) in the vertical direction.


Horizontal jerk nystagmus

Nystagmus consisting of horizontal to-and-fro eye movements, in which the movement in one direction is faster than in the other.


color vision disorder

The absence of or defect in the perception of colors.


paralytic strabismus

An ocular deviation caused by a palsy to one or more of the extraocular muscles or nerves supplying them.


Inferior rectus muscle underaction

Reduced movement by the inferior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy.


Anterior lenticonus

A conical projection of the anterior surface of the lens, occurring as a developmental anomaly.


Heliotrope rash of eyelid

Heliotrope rash is a violaceous discoloration of the eyelids associated with periorbital edema.


Ultra-low vision with retained light perception

Ultra-low vision but with retained ability to perceive the difference between light and dark.


Compensatory face turn to the left

A tendency to turn the face to the left to compensate for a limitation of eye movement.


Iridodonesis

Tremulousness of the iris on movement of the eye, occurring in subluxation of the lens.


Abnormal nasolacrimal system morphology

An abnormality of the nasolacrimal drainage system, which serves as a conduit for tear flow from the external eye to the nasal cavity.


Multiple bilateral congenital hypertrophy of retinal pigment epithelium

Sharply demarcated hyperpigmentation which is congenital.


Concomitant strabismus

Strabismus in which the angle of deviation of the squiting eye remains the same in relation to the other eye, in all directions of gaze, and whichever eye is fixing.


Reticular pigmentary degeneration

A type of retinal reticular pigmentation that forms a polygonal, netlike arrangement of hyperpigmented lines forming geometric patterns in the fundus.


Near exotropia

An intermittent exotropia where there is binocular single vision on distance fixation and exotropia at near (intermittent or constant).


blepharochalasis

An eyelid disease that is characterized by exacerbations and remissions of eyelid edema, which results in a stretching and subsequent atrophy of the eyelid tissue, leading to the formation of redundant folds over the lid margins.


Limited extraocular movements

Limited mobility of the eye within its socket.


Absent lower eyelashes

Lack of eyelashes on the lower lid.


Abnormal ocular alignment

Any deviation from the normal ocular alignment.


Compensatory chin depression

A tendency to hold the chin depressed (lowered) to compensate for a limitation of eye movement.


Lateral rectus muscle weakness

Decreased strength (ability to move) of the lateral rectus muscle.


Conjunctival whitish salt-like deposits

The presence of whitish deposits in the conjunctiva resembling salt. May be related to calcinosis.


Optic nerve arteriovenous malformation

An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the optic nerve.


Inferior lens subluxation

Partial displacement of the lens in the inferior direction.


Photoreceptor layer loss on macular OCT

Loss of the outer nuclear layer (photoreceptor layer) as assessed by ocular coherence tomography.


Kayser-Fleischer ring

Grey-green or brownish-pigmented ring in the deep epithelial layers at the outer border of the cornea.


Heterophoria

Heterophorias are latent deviations that are controlled by fusion. In certain circumstances (specific visual tasks, fatigue, illness, etc.), fusion can no longer be maintained and decompensation occurs.


Brief tear break-up time

Tear film break up time (number of seconds that elapse between the last blink and the appearance of the first dry spot in the tear film) below the lower limit of normal.


Trichiasis

Inversion and rubbing of the eyelashes against the globe of the eye.


Paroxysmal tonic upgaze

Recurrent episodes of sustained upward deviation of the eyes and incomplete downward saccades, and normal horizontal eye movements without impairment of consciousness.


ectropion

The turning outward (eversion) of the edge of the eyelid, resulting in the exposure of the palpebral conjunctiva. (Dorland, 27th ed)


Abnormal corneal reflex

An anomaly of the corneal reflex that normally induces involuntary blinking of the eyelids following contact of the cornea.


Holmes-Adie syndrome

A rare syndrome characterized by an abnormally dilated pupil, hypoflexia, and diaphoresis. The syndrome is usually caused by a viral or bacterial infection. The abnormally dilated pupil is caused by damage to postganglionic parasympathetic fibers innervating the eye.


Abnormal light- and dark-adapted electroretinogram

An abnormality of the combined rod-and-cone response on electroretinogram.


posterior uveitis

Inflammation of the choroid as well as the retina and vitreous body. Some form of visual disturbance is usually present. The most important characteristics of posterior uveitis are vitreous opacities, choroiditis, and chorioretinitis.


Abnormal pupil morphology

An abnormality of the pupil.


Retinal astrocytic hamartoma

A glial tumor of the retinal nerve fiber layer arising from a retinal astrocyte.


Eccentric visual fixation

A uniocular condition in which there is fixation of an object by a point other than the fovea. This point adopts the principal visual direction. The degree of the eccentric fixation is defined by its distance from the fovea in degrees.


Thin eyebrow

Decreased diameter of eyebrow hairs.


Corneolenticular adhesion

Developmental abnormality in which the lens and cornea are not separated.


Highly arched eyebrow

Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape.


Posterior cortical cataract

A cataract that affects the posterior part of the cortex of the lens.


Moderate hypermetropia

A form of hypermetropia with more than +2.00 diopters but not more than +5.00 diopters.


retinoschisis

An inherited or acquired disorder characterized by splitting of the retina into two layers. It results in loss of vision.


Spasmus nutans

Spasmus nutans (SN) is a rare eye disease characterized by the clinical triad of asymmetric and pendular nystagmus, head nodding, and torticollis.


Compensatory head tilt to the left shoulder

A tendency to tilt the head towards the left shoulder to compensate for a limitation of eye movement.


Abnormal posterior eye segment morphology


Incyclophoria

A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated inward (medially) to each other.


Synophrys

Meeting of the medial eyebrows in the midline.


Abnormal Vistech contrast sensitivity test

An abnormality in perception of contrast as measured by the Vistech wall chart sine wave grating test.


Corneopalpebral synechiae

An adhesion between the conjunctiva of the eyelid and the cornea.


Central opacification of the cornea

Reduced transparency of the central portion of the corneal stroma.


Oval pupil

An abnormal pupil shape that is elliptical, i.e., egg-like.


Opsoclonus

Bursts of large-amplitude multidirectional saccades without intersaccadic interval


Increased Arden ratio of electrooculogram

An abnormal increase in the Arden ratio, which is the ratio between the light peak and the dark trough of the smoothed (physiologic) EOG record.


Esophoria

A form of strabismus with both eyes turned inward to a relatively mild degree, usually defined as less than 10 prism diopters.


Incomitant strabismus

Strabismus in which the angle of deviation differs depending upon the direction of gaze or according to which eye is fixing, associated with: (i) defective movement of the eye, (ii) asymmetrical accommodative effort.


Retinopathy of prematurity stage 4a

A detachment that involves the peripheral retina that does not extend into the macula.


Abnormal extraocular muscle physiology

A functional anomaly of the muscles of the eye.


Dull foveal reflex

Reduced brigthness of the foveal reflex, which normally is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope.


Superior rectus muscle restriction

Mechanical limitation of the range of movement of the superior rectus muscle.


Asteroid hyalosis

The presence of small, white vitreous opacities consisting of calcium phosphate and complex, layered lipid deposits.


Anomalous trichromacy

Individuals with anomalous trichromacy possess three types of cones, but one of the three types of cones has an abnormal spectral sensitivity compared to normal cones.


optic choroid disorder

A disease involving the optic choroid.


ocular cancer

A benign or malignant neoplasm affecting the structures of the eye.


White eyelashes

White color (lack of pigmentation) of the eyelashes.


Hyperpigmentation of the fundus

Increased pigmentation of the fundus


Abnormal Humphrey SITA 24-2 perimetry test


Cyclic esotropia

Convergent strabismus in which normal binocular single vision is alternating with large angle esotropia in rhythmic cycle.


Band keratopathy

An abnormality of the cornea characterized by the deposition of calcium in a band across the central cornea, leading to decreased vision, foreign body sensation, and ocular irritation.


Generalized opacification of the cornea

Generalized reduced transparency of the stroma of the cornea.


Abnormal timing of light-adapted single flash electroretinogram


retrobulbar neuritis

Optic neuritis that occurs in the section of the optic nerve located behind the eyeball.


Hyperautofluorescent retinal lesion

Increased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging.


Abnormal suspensory ligament of lens morphology

An anomaly of the suspensory ligament of lens, also known as the ciliary zonule. These ligaments represent a series of fibers connecting the ciliary body and lens of the eye, holding the lens in place.


Anterior staphyloma

A localized defect in the anterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure.


Infantile constant esotropia

Constant esotropia occurring before 6 months of age. It is typically associated with a large angle of deviation, alternating fixation (therefore low risk of amblyopia) and poor potential for binocular single vision. Other features that might be present in individuals with infantile (constant) esotropia include latent nystagmus or manifest latent nystagmus, dissociated vertical divergence, cyclotropia, abnormal head posture, limited abduction.


Peripheral retinal detachment

Separation of the inner layers of the retina (neural retina) from the pigment epithelium occuring near the outer limit (periphery) of the retina.


A type of choroidal neovascularization in which the nearest edge of the area of neovascularization is located 200 to 1500 micrometers from the center of the fovea.


congenital stationary night blindness

A nonprogressive (i.e., stationary) form of difficulties with night blindness with congenital onset.


Christmas tree cataract

A type of cataract that shows a spectacular display of multiple colours that glitters with the change of incident light like an illuminated Christmas tree.


Chemosis

Edema (swelling) of the bulbar conjunctiva.


Spontaneous rupture of the globe

Rupture of the eyeball not due to trauma.


Abnormal rectus muscle physiology

A functional anomaly of a vertical or horizontal rectus muscle.


Optically empty vitreous

Vestigial vitreous gel occupying the immediate retrolental space and minimal to no discernable gel in the central vitreous cavity, giving the appearance of an empty vitreous cavity.


Elevated blink rate

The frequecy with which the eye is blinked is above the upper limit of normal.


Retinal calcification

Deposition of calcium salts in the retina.


Anterior chamber cells grade 3+

Anterior chamber cells with 26-50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.


Irregular central macular autofluorescence


snowflake vitreoretinal degeneration

Snowflake vitreoretinal degeneration (SVD) is characterized by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localized to a small region on chromosome 2q36.


Abnormal eye morphology

A structural anomaly of the globe of the eye, or bulbus oculi.


Anterior chamber flare grade 4+

Intense anterior chamber flare (fibrin/plastic aqueous).


Oil-drop brown pigmentation of the corneal limbus

Brown pigment spots in the limbus (border between the cornea and the sclera).


Abnormal migration of corneal endothelium.


Absent eyebrow

Absence of the eyebrow.


Retinal nonattachment

Failure of attachment of the retina during development.


Lamellar pulverulent cataract

A Lamellar cataract with a pulverulent (punctate, "dust-like" opacities) appearance.


Posterior crocodile shagreen of the cornea

Grayish, polygonal pattern of opacities with intervening clear zones across the central cornea that resembles crocodile skin.


Abnormality of the ocular adnexa

An anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva.


Horizontal pendular nystagmus

Nystagmus consisting of horizontal to-and-fro eye movements of equal velocity.


Thick eyebrow

Increased density/number and/or increased diameter of eyebrow hairs.


cicatricial entropion

Abnormal inversion (turning inward) of the eyelid towards the globe associated with scarring that vertically shortens the posterior lamella of the eyelid.


Protanopia

Blue and green cones only; no functional red cones.


Conjunctival dermolipoma

A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimetres posterior to the limbus.


pulverulent cataract

A cataract that has material basis in heterozygous mutation in the CRYGC gene on chromosome 2q33.


retinitis pigmentosa

Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.


Posterior polar cataract

A polar cataract that affects the posterior pole of the lens.


Abnormality of corneal thickness

An abnormal anteroposterior thickness of the cornea.


Punctate opacification of the cornea

Punctate opacification (reduced transparency) of the corneal stroma.


Abnormal anterior eye segment morphology

An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens).


Limbal edema

Swelling of the margin of the cornea overlapped by the sclera.


Perifoveal hypoautofluorescence

Decreased amount of autofluorescence (emission of fluorescent light from ocular structures in the absence of sodium fluorescein) in the retina in the region surrounding the fovea.


Abnormal distribution of retinal arterioles and venules


cone dystrophy

An inherited ocular disorder characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision.


Vitreomacular adhesion

Perifoveal vitreous separation with remaining vitreomacular attachment and unperturbed foveal morphologic features. It is an OCT finding that is almost always the result of normal vitreous aging, which may lead to pathologic conditions.


Retinal arterial macroaneurysms

Acquired focal dilatations of branches of the retinal artery, usually second-order retinal arterioles, that range in size from 100 to 200 micrometers in diameter. Macroaneurysms are generally located at the termporal retina and may be hemorrhagic or exudative.


Abnormal corneal endothelium morphology

Abnormality of the corneal endothelium, that is, the single layer of cells on the inner surface of the cornea.


Progressive external ophthalmoplegia

Initial bilateral ptosis followed by limitation of eye movements in all directions and slowing of saccades.


Increased vertical cup-to-disc ratio - 0.8

Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.8 (The normal cup-to-disc ratio is 0.3).


Foveal inner retinal layer loss on macular OCT


Dysmetric horizontal saccades

Inaccurate saccades (rapid movement of the eye between fixation points) in the horizontal direction.


enophthalmos

Abnormal recession of the eyeball within the eye socket.


Hypotelorism

Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes).


Focal subretinal deposits

Deposits accumulating between the outer retina and the retinal pigment epithelium and that have a focal distribution.


Lateral rectus muscle restriction

Mechanical limitation of the range of movement of the lateral rectus muscle.


Inferior chorioretinal coloboma

Absence of a region of the retina, retinal pigment epithelium, and choroid at the lower part of the fundus.


Scleral thickening

Increased dimension of the sclera in the anterior-posterior axis.


Adult-onset night blindness

Inability to see well at night or in poor light with onset in adulthood.


Abnormality of foveal pigmentation

An anomaly of the pigmentation in the fovea centralis.


Ectopic cilia of eyelid

An eyelash that emerges from the underside (conjunctiva) of the upper or lower eyelid.


Keratoglobus

Limbus-to-limbus corneal thinning, often greatest in the periphery, with globular protrusion of the cornea.


Incyclotropia

A type of cyclotropia (torsion of one or both eye around the visual axis of the eyes) in which the upper poles of the globes are rotated inward (medially) to each other.


Macular flecks

Pale often indistinct lesions of the macula.


Alternating hyperphoria

A type of vertical phoria in which, in dissociation, the occluded eye deviates upwards.


Abnormal visual accommodation

An anomaly in the process of visual accommodation, which is the process of adjustment of the eye to enable sharp vision of objects at different distances. Accommodation is mediated by contraction of the ciliary muscles, which alter the convexity of the lens and, consequently, its refractive power.


Deep episcleral hyperemia

Prominence of blood vessels of the deep episcleral tissues.


Iris pigment dispersion

Shedding of the pigment granules that normally adhere to the back of the iris into the aqueous humor.


Against the rule astigmatism

Astigmatism with more plus power on the horizontal meridian.


Infantile constant exotropia

Constant exotropia occurring before 6 months of age.; often associated with a large angle of deviation and ocular/CNS abnormalities.


Increased axial length of the globe

Abnormal largeness of the eye with an axial length > 2.5 standard deviations from population mean.


Inferior oblique muscle overaction

A common ocular motility disorder characterized by vertical incomitance of the eyes in lateral gaze. In primary inferior oblique muscle overaction, an upshoot of the adducting eye occurs when gaze is directed into the field of action of the inferior oblique muscle, producing a greater upward excursion of the adducted eye than of the abducted eye.


Aplasia/Hypoplasia of the lens

Absence or underdevelopment of the lens.


Impaired pursuit initiation and maintenance


Hypermetric saccades

A saccade that overshoots the target with the dynamic saccade.


intermediate uveitis

Inflammation of the pars plana.


Abnormal eyelid physiology

Any functional abnormality of the eyelid.


Lens coloboma

A sectoral indentation of the crystalline lens, usually due to zonular weakness or absence.


Macular thickening

Abnormal increase in retinal thickness in the macular area observed on fundoscopy or fundus imaging.


Iris cyst

An iris cyst is composed of a single cell layer of epithelium and is filled with fluid.


Gaze-evoked horizontal nystagmus

Horizontal nystagmus made apparent by looking to the right or to the left.


glaucoma 3A

An autosomal recessive form of congenital glaucoma caused by mutation(s) in the CYP1B1 gene, encoding cytochrome P450 1B1.


primary angle-closure glaucoma

An angle-closure glaucoma characterized by closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Primary angle-closure glaucoma has symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Primary angle closure glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component.


Cyclic exotropia

A type of exotropia (divergent strabismus) in which binocular single vision alternates with large angle exotropia in rhythmic cycle.


Vitreous strands

Fiber- or rope-like opacities located within the vitreous humor.


retinal telangiectasia

Dilatation of small blood vessels of the retina.


Distance exotropia

A type of divergent strabismus (exotropia) in which an eye tends to turn outwards (i.e., the eye squints) mainly when looking at distant objects. The eyes tend to remain straight when they look at near objects. Distance exotropia may be constant or intermittent.


corneal dystrophy

The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value.


Inflammatory abnormality of the eye

Inflammation of the eye, parts of the eye or the periorbital region.


cone-rod dystrophy 21

Any cone-rod dystrophy in which the cause of the disease is a mutation in the DRAM2 gene.


Dark choroid

A fluorescein angiographic finding of absence of the normal background fluorescence (a dark choroid).


Retinopathy of prematurity zone III

Retinopathy which is a residual crescent of retina anterior to zone II.


Foveal hemorrhage

Bleeding occurring within the fovea.


Iris nevus

A benign brown pigmented area over the iris representing proliferation of melanocyte cells in the stromal layer of the iris. An iris nevus can be flat or occasionally slightly elevated.


Pericentral scotoma

A scotoma (area of diminished vision within the visual field) that surrounds the central fixation point.


Corneal pterygium

Corneal pterygium is an ocular surface disease characterized mainly by a wing-shaped growth of limbal and conjunctival tissue over the adjacent cornea.


bradyopsia

Bradyopsia is characterized by prolonged electroretinal response suppression leading to difficulties adjusting to changes in luminance, normal to subnormal acuity and photophobia.


Hypoautofluorescent retinal lesion

Decreased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging.


Abnormality of pattern reversal visual evoked potentials


Foveal subretinal hyporeflective spaces on macular OCT


Abnormal eyelash morphology

An abnormality of the eyelashes.


Increased OCT-measured macular thickness


Tortuosity of conjunctival vessels

The presence of an increased number of twists and turns of the conjunctival blood vessels.


Fractured orbit of skull

A partial or complete breakage of the orbit of skull.


Medial rectus muscle underaction

Reduced movement of the medial rectus muscle which improves on testing ductions, typically associated with neurogenic palsy.


Reduced amplitude of dark-adapted bright flash electroretinogram a-wave

An abnormal reduction in the amplitude of the a-wave.


Retinitis pigmentosa inversa

Retinitis pigmentosa inversa is form of retinal degeneration characterized by areas of retinal/chorioretinal degeneration with pigment migration in the macular area (in contrast to retinitis pigmentosa which, at early disease stages, predominantly affects the retinal periphery).


Submacular hemorrhage

Bleeding between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation.


anterior segment dysgenesis

A spectrum of developmental anomalies that affect the development of the anterior segment of the eyeball resulting from abnormalities of neural crest migration and differentiation during embryologic development (Axenfeld-Rieger syndrome, Peters anomaly, posterior keratoconus, and iridoschisis).


Superior lens subluxation

Partial dislocation of the lens in a superior direction.


Retinal nerve fiber edema

Swelling (edema) of the retinal nerve fibers.


Glial remnants posterior to lens

This anomaly, also known as Mittendorf dot, is a benign, nonprogressive recognizable lesion that does not cause visual impairment. However, it can resemble a pathological congenital or acquired cataract lesion which may enlarge and cause visual impairment. The dot appears as a black speck that ranges in size from the dot made by a sharp pencil point to the size of a poppy seed. It is usually well defined, although occasionally there may be irregular, fine lines radiating outward from the dot.


Small yellow foveal lesion with surrounding gray zone

A lesion that is observed following light damage to the macula. Damage to the retinal by exposure to intense visible light, usually the sun. Intense light exposure such as staring at the sun causes fine structural anomalies in the outer segments of the photoreceptors and the retinal pigment epithelium (RPE) cells of the macula. Symptoms usually develop within 1 to 4 h after exposure and include decreased vision, metamorphopsia, micropsia, and central or paracentral scotomas. Fundus examination typically shows a small yellow spot with a surrounding gray zone in the foveolar or parafoveolar area. Spontaneous evolution leads to the improvement of visual acuity.


Abnormality of globe size

An abnormality in the size of the ocular globe (eyeball).


aniridia

Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia).


Anterior chamber cells grade 4+

Anterior chamber cells with more than 50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.


Mild myopia

A mild form of myopia with up to -3.00 diopters.


Aplasia/Hypoplasia affecting the uvea

Absence or underdevelopment of the uvea, the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid.


early-onset non-syndromic cataract

Early-onset non-syndromic cataract is a rare, genetic, non-syndromic developmental defect of the eye, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however other organs/systems are usually not affected.


Conjunctival telangiectasia

The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva.


Square-wave jerks

Square wave jerks are saccadic eye movements which, when recorded with open eyes are considered to be a pathological sign, caused by fixation instability, and pointing to a central neurological lesion.


Granular macular appearance

Mottled (spotted or blotched with different shades) pigmentary abnormality of the macula lutea.


Decreased lacrimation

Abnormally decreased lacrimation, that is, reduced ability to produce tears.


Saccadic oscillation

An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by an immediate corrective saccade.


Lacrimation abnormality

Abnormality of tear production.


Choroidal nevus

A benign, flat or slightly elevated melanocytic lesions of the posterior uveawith clearly defined margins. Choroidal nevi tend they remain stable in size, and to display features such as overlying drusen as well as retinal pigment epithelial atrophy, hyperplasia or fibrous metaplasia.


Dot-and-blot retinal hemorrhage

Accumulation of blood located in the retina's inner nuclear and outer plexiform layers, and having a dot-like or blot-like shape. THe shape results from intraretinal compression, restricting the hemorrhages within a specific location.


cataract 16 multiple types

Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYAB gene.


Abnormal horizontal rectus muscle physiology

A functional anomaly of the medial rectus muscle or lateral rectus muscle.


Membranous cataract

A form of cataract in which the lens substance has shrunk, leaving a collapsed, flattened capsule with little or no cortex or epithelium on the lens.


Short eyelashes

Decreased length of the eyelashes (subjective).


Giant conjunctival papillae

Conjunctival papillae with a diameter greater than 1 millimeter. They characteristically have flattened tops which sometimes demonstrate staining with fluorescein.


Excyclotropia

A type of cyclotropia (torsion of one or both eye around the visual axis of the eyes) in which the upper poles of the globes are rotated outward (laterally) to each other.


Polycoria

Multiple pupils.


Inferior oblique muscle restriction

Mechanical limitation of the range of movement of the inferior oblique muscle.


Horizontal nystagmus

Nystagmus consisting of horizontal to-and-fro eye movements.


Basic constant exotropia

Constant exotropia for near and distance, presenting after 6 months of age.


Ophthalmoparesis

Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement.


Hypoplasia of the ciliary body

Underdevelopment of the ciliary body.


Abnormal fundus morphology

Any structural abnormality of the fundus of the eye.


Limited vertical extraocular movement

Limited mobility of the eye to move up and down (vertically) within its socket.


Hypermetric horizontal saccades

Overshoot of horizontal (sideways) saccadic eye movements.


Congenital stationary night blindness with abnormal fundus


Abnormal involuntary eye movements

Anomalous movements of the eyes that occur without the subject wanting them to happen.


Conjunctival follicles

Small, dome-shaped nodules without a prominent central vessel located on the conjunctiva. The lymphoid follicles are located in the subendothelial region of the conjunctiva. They consist of a germinal center that contains immature, proliferating lymphocytes, as well as a corona that contains mature lymphocytes and plasma cells.


Bussaca nodules

A type of iris nodule consisting of inflammatory cell precipitates which lie on the iris surface.


Scintillating scotoma

A scintillating scotoma is a common visual aura that can preced a migraine, whereby a spot of flickering light near the center of the visual fields occurs. The spot prevents vision, and is thus termed scotoma. The scotoma can extend into one or more shimmering arcs of white or colored flashing lights.


fundus albipunctatus

Fundus albipunctatus is a rare, genetic retinal dystrophy characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age.


amblyopia

Decreased vision that results from abnormal visual development.


Impaired horizontal smooth pursuit

An abnormality of ocular smooth pursuit characterized by an impairment of the ability to track horizontally moving objects.


Eye movement-induced pain

An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye that is worse in certain directions of gaze and during prolonged gaze holding.


Retinal arteriolar tortuosity

The presence of an increased number of twists and turns of the retinal arterioles.


retinal microaneurysm

An aneurysm that is located within the system of small blood vessels, including capillaries, venules, and arterioles, that perfuse the body's tissues.


Compensatory chin elevation

A tendency to hold the chin elevated by about 20 to 30 degrees to compensate for a limitation of eye movement.


Severe constriction of peripheral visual field

Peripheral visual field constriction with 10-19 degrees central field preserved.


Optic pit

A developmental anomaloy characterized by congenital excavation of the optic nerve head.


Retinopathy of prematurity zone I

Retinopathy which extends from the center of the optic disc to twice the distance from the center of the optic disc to the center of the macula.


Alternating hypotropia

A type of vertical tropia in which, when one eye is fixing, the other eye is deviated downwards.


Central heterochromia

The presence of distinct colors in the central (pupillary) zone of the iris than in the mid-peripheral (ciliary) zone.


Abnormal pattern electroretinogram

An anomalous response to a pattern electroretinogram (PERG), a particular kind of ERG obtained in response to contrast modulation of patterned visual stimuli at constant mean luminance-typically contrast-reversing gratings or checkerboards-whose characteristics are fundamentally different from those of the traditional ERG in response to diffuse flashes of light.


Long eyelashes

Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective).


Retinal crystals

Crystalline deposits in the retina.


Juvenile cataract

A type of cataract that is not apparent at birth but that arises in childhood or adolescence.


Abnormality of fundus pigmentation

Any anomaly of the pigmentation of the fundus, the posterior part of the eye including the retina and optic nerve.


Superior rectus muscle weakness

Decreased strength of the superior rectus muscle.


Decreased corneal reflex

An abnormally reduced response to stimulation of the cornea (by touch, foreign body, blowing air). The corneal reflex (also known as the blink reflex, normally results in an involuntary blinking of the eyelids.


accommodative esotropia

A form of esotropia (convergent deviation of the eyes) associated with activation of the accommodative reflex.


Anterior chamber inflammatory cells

The presence of inflammatory cells in the aqueous humor of the anterior chamber of the eye.


peripheral retinal degeneration

Degeneration of the peripheral retina.


Lisch nodules

The presence of pigmented, oval and dome-shaped raised hamartomatous nevi of the iris..


Triangular nuclear cataract

A nuclear cataract with a triangular form.


Focal sub-RPE deposits

Deposits accumulating between the retinal pigment epithelium and Bruch's membrane and that are distributed in a single focus.


Abnormal amplitude of pattern electroretinogram


retinal cancer

A malignant neoplasm involving the retina.


Bilateral microphthalmos

A developmental anomaly characterized by abnormal smallness of both eyes.


Ultra-low vision with retained motion projection

Ultra-low vision but with retained ability to identify a moving object (typically hand motion at distance of 30 cm).


ocular albinism

Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity.


arcus senilis

A corneal disease in which there is a deposition of phospholipid and cholesterol in the corneal stroma and anterior sclera.


Abnormal timing of light-adapted flicker electroretinogram


Spontaneous conjunctival filtering bleb

Avascular cystic elevations of the superior conjunctiva not related to ocular surgery or trauma.


Abnormal retinal morphology on macular OCT


Perifoveal ring of hyperautofluorescence surrounded by normal autofluorescence


Abnormality of eye movement

An abnormality in voluntary or involuntary eye movements or their control.


Seesaw nystagmus

Seesaw nystagmus is a type of pendular nystagmus where a half cycle consists of the elevation and intorsion of one eye, concurrently with the depression and extortion of the fellow eye. In the other half cycle, there is an inversion of the ocular movements.


red-green color blindness

Deuteranopia is a type of color vision deficiency where the green photoreceptors are absent. It affects hue discrimination in the same way as protanopia, but without the dimming effect. Like protanopia, it is hereditary, sex-linked, and found in about 1% of the male population.


Subretinal pigment epithelium hemorrhage

An accumulation of blood located between the retinal pigment epithelium (RPE) and Bruch's membrane.


Perifoveal ring of hyperautofluorescence


Posterior lenticonus

A conical projection of the posterior surface of the lens, occurring as a developmental anomaly.


Abnormal uvea morphology

An abnormality of the uvea, the vascular layer of the eyeball.


Cerebral visual impairment

A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye.


Axenfeld anomaly

Axenfeld's anomaly is a rare congenital ocular defect caused by anterior segment dysgenesis and is characterized by anteriorly displaced Schwalbe's line and iris bands extending into the cornea. In contrast, Rieger's anomaly includes characteristic iris and pupil anomalies.


Defect of palpebral conjunctiva

An abnormality of the palpebral conjunctiva.


Abnormal paracentral response of multifocal electroretinogram


Abnormal corneal limbus morphology

An anomaly of the margin of the cornea overlapped by the sclera.


Poor visual behavior for age

Lack of visual responsiveness or decrease in visual capabilities suggesting a lack of visual responsiveness or decrease in visual capabilities in an infant or young child in which visual behavior fails to meet normal developmental milestones.


Foveal atrophy

Partial or complete loss of foveal tissue that was once present.


megalocornea

An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age.


Abnormal iris pigmentation

Abnormal pigmentation of the iris.


Foveal depigmentation

Loss of pigment in the fovea centralis.


Optic nerve dysplasia

The presence of developmental dysplasia of the optic nerve.


Abnormal timing of pattern reversal visual evoked potentials


Abnormal ocular adnexa physiology

A functional anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva.


Temporal optic disc pallor

A pale yellow discoloration of the temporal (lateral) portion of the optic disc.


Bitot spots of the conjunctiva

Keratinization of the bulbar conjunctiva near the limbus (corneoscleral junction), resulting in a raised spot.


retinal arterial tortuosity

The presence of an increased number of twists and turns of the retinal artery.


Increased cup-to-disc ratio

An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disc. The optic disc has an orange-pink rim with a pale centre (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells.