Saccadic intrusion

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


central retinal artery occlusion

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Blockage of the central retinal artery.


Paravenous chorioretinal atrophy

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Chorioretinal atrophy along the retinal veins.


Macular crystals

Crystalline deposits in the macula.


Sudden loss of visual acuity

Severe loss of visual acuity within hours or days. This is characteristic of Leber hereditary optic neuropathy.


Dense posterior cortical cataract

A type of posterior cortical cataract characterized by dense lenticular opacities.


Ultra-low vision with no light perception

Ultra-low vision with complete lack of light and form perception.


Blue irides

A markedly blue coloration of the iris.


cystoid macular retinal degeneration

A form of macular degeneration characterized by the presence of multiple cysts in the macula.


Inferior rectus muscle overaction

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


Vitreomacular traction

Vitreomacular traction is characterized by anomalous posterior vitreous detachment accompanied by anatomic distortion of the fovea, which may include pseudocysts, macular schisis, cystoid macular edema, and subretinal fluid. Vitreomacular traction can be subclassified by the diameter of vitreous attachment to the macular surface as measured by OCT, with attachment of 1500 micrometers or less defined as focal and attachment of more than 1500 micrometers as broad.


Increased vertical cup-to-disc ratio - 0.9

Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.9 (The normal cup-to-disc ratio is 0.3).


euryblepharon

Euryblepharon is a rare congenital eyelid anomaly of unknown etiology characterized by the bilateral horizontal enlargement of the palpebral fissure with vertically shortened eyelids, lateral canthus malpositioning and lateral ectropion. It may be isolated or associated with other ocular anomalies (e.g. strabismus or telecanthus) or systemic anomalies (e.g. blepharo-cheilo-odontic syndrome). In severe cases, it may result in lagophthalmos and exposure keratopathy, requiring surgical treatment.


Conjunctival lipoma

A lipoma (a benign tumor composed of adipose tissue) located in the conjunctiva.


Abnormality of pattern onset/offset visual evoked potentials


Photoreceptor outer segment loss on macular OCT


Abnormal timing of pattern onset/offset visual evoked potentials


Intraretinal hemorrhage

A subtype of fundus hemorrhage occurring within the neurosensory retina. Intraretinal haemorrhages may be 'dot' or' blot' shaped or flame shaped depending upon their depth within the retina.


Retinal coloboma

A notch or cleft of the retina.


Retinopathy of prematurity stage 5b

A closed funnel detachment of the retina with generally traction in all four quadrants.


Exophoria

A form of strabismus with one or both eyes deviated outward to a milder degree than with exotropia.


Abnormal line of Schwalbe morphology

An abnormality of the line of Schwalbe.


Macular hemorrhage

Bleeding occurring within the macula lutea of the retina.


Compensatory head tilt to the right shoulder

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


Abnormal lacrimal bone morphology

An abnormality of the lacrimal bone.


Abnormal Esterman grid perimetry test

The Esterman grid test assays scores visual acuity. The grid consists of 100 units whose unequal size and distribution reflect the unequal functional value of different parts of the field-in effect a weighted or relative-value scale. Because each unit equals 1 percent, a simple count of units yields the functional score in percent.


Oculomotor synkinesis

Elevation of the upper eyelid on attempted downward gaze or adduction, adduction of the eye on attempted upward or downward gaze, and constriction of the pupil on attempted adduction.


familial congenital nasolacrimal duct obstruction

No identifiable superior and/or inferior lacrimal punctum.


Abnormal dark-adapted bright flash electroretinogram


Abnormal eye physiology

A functional anomaly of the eye.


Abnormality of vision

Abnormality of eyesight (visual perception).


Leukocoria

An abnormal white reflection from the pupil rather than the usual black reflection.


Supranuclear gaze palsy

A supranuclear gaze palsy is an inability to look in a particular direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.


cataract 5 multiple types

Any cataract (disease) in which the cause of the disease is a mutation in the HSF4 gene.


Abnormal amplitude of dark-adapted dim flash electroretinogram


malignant choroid melanoma

A uveal melanoma that arises from the choroid. It is the most common primary malignant intraocular tumor. It usually affects Caucasians of northern European descent. It usually remains asymptomatic for a long period. When signs and symptoms occur, they include blurred vision, visual field loss, floaters, and ocular pain. Tumor size is the most important factor that relates to prognosis.


Abnormal inferior rectus muscle physiology

A functional anomaly of the inferior rectus muscle, which is innervated by the inferior division of oculomotor nerve and functions in the depression, adduction, and lateral rotation (extortion) of the eye.


Falciform retinal fold

An area of the retina that is buckled so that a sector-shaped sheet of retina lies in front of the normal retina. This feature is of congenital onset.


Medial rectus muscle weakness

Decreased strength of the medial rectus muscle.


Peripheral retinal neovascularization

A type of retinal neovascularization that affects the periphery of the retina.


Heterotropia

Manifest deviation of the visual axes not controlled by fusion.


Very severe constriction of peripheral visual field

Peripheral visual field constriction with <10 degrees central field preserved.


Asymmetry of intraocular pressure

A difference in the amount of intraocular pressure in the right and left eye.


Abnormality of refraction

An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina.


Anterior chamber cells grade 0

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


Anterior pyramidal cataract

A type of anterior polar cataract which projects as a conical opacity into the anterior chamber.


Abnormal lacrimal duct morphology

An abnormality of the lacrimal duct, a duct that drain tears from the conjunctiva, via the lacrimal puncta, into the lacrimal sac.


Microtropia with identity

A type of microtropia with no manifest movement on cover test, the eccentric fixation point coinciding with the angle of ARC.


Convergence-retraction nystagmus

Convergence-retraction nystagmus is an irregular, jerky nystagmus in which both eyeballs rhythmically converge and retract into the orbit, particularly on attempting an upward gaze.


Mizuo phenomenon

Change in the color of the fundus from red in the dark-adapted state to golden immediately or shortly after the onset of the light. The color of the fundus reflex in the light adapted state has also been described as golden-yellow, gray-white, and yellow-white. This reflex can appear either homogeneous or in streaks in the fundus. The retinal vessels appear to be protruding in contrast to the radiant background. Dark adaptation leads to disappearance of the unusual fundus coloration [Digital Journal of Ophthalmology 2008; Volume 14, Number 14].


Epicanthus superciliaris

A type of epicanthus in which more extensive epicanthal folds with their origins in the eyebrow cover, pass in front of and lateral to the medial canthus (middle corner of the eye).


Posterior Y-sutural cataract

A type of sutural cataract in which the opacity follows the posterior Y suture.


Chaotic rapid conjugate ocular movements


No detectable response to the light-adapted 3.0 ERG (single-flash cone response). This type of ERG measures responses of the cone system; a-waves arise from cone photoreceptors and cone off-bipolar cells; the b-wave comes from On- and Off-cone bipolar cells.


Pseudoexfoliation

Deposition of fibrillar material that can be found on all anterior segment structures bathed by aqueous humor.


Slow pupillary light response

Reduced velocity and acceleration in the pupillary light response.


Cortical pulverulent cataract

A type of cataract characterized by punctate, dust-like opacities within the cortical region of the lens.


Patchy atrophy of the retinal pigment epithelium

Wasting (atrophy) of the retinal pigment epithelium present in small, isolated areas.


heterochromia iridis

Heterochromia iridis is a difference in the color of the iris in the two eyes.


Inferior retinal coloboma

A notch or cleft of the lower part of the retina.


Epicanthus tarsalis

A type of epicanthus in which a primarily upper lid fold is present.


Abnormal trabecular meshwork morphology

An anomaly of the trabecular meshwork, which is the porelike structure surrounding the entire circumference of the anterior chamber at the base of the cornea and near the ciliary body. The trabecular mesh work is responsible for draining the aqueous humor into the canal of Schlemm.


Alacrima

Absence of tear secretion.


corneal neovascularization

New blood vessels originating from the corneal veins and extending from the limbus into the adjacent corneal stroma. Neovascularization in the superficial and/or deep corneal stroma is a sequel to numerous inflammatory diseases of the ocular anterior segment, such as trachoma, viral interstitial keratitis, microbial keratoconjunctivitis, and the immune response elicited by corneal transplantation.


Abnormal superior oblique muscle physiology

A functional anomaly of the superior oblique muscle, a fusiform muscle that originates in the upper, medial side of the orbit. The superior oblique muscle abducts, depresses and internally rotates the eye, and is the only extraocular muscle innervated by the fourth cranial nerve.


irregular astigmatism

A type of astigmatism in which the principle meridians are not 90 degrees apart and which is associated with loss of vision.


Convergence excess esotropia

An intermittent esotropia with binocular single vision present at distance fixation but esotropia on accommodation for near fixation. Usually associated with hypermetropia but patients can be emmetropic and rarely myopic. Associated with a high accommodative convergence/accommodation (AC/A) ratio.


Distance esotropia

An intermittent esotropia where binocular single vision is present on near fixation and an esotropia on distance fixation. Often associated with myopia and aging.


Pendular nystagmus

Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction.


Dichromacy

Individuals affected by dichromacy possess only two types of cones, instead of three.


Wagner disease

Wagner disease is a rare hereditary vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment.


lens subluxation

A partial dislocation of the lens of the eye.


Cyclopia

Cyclopia is a congenital abnormality in which there is only one eye. That eye is centrally placed in the area normally occupied by the root of the nose.


Peripapillary atrophy

Thinning in the layers of the retina and retinal pigment epithelium around the optic nerve.


early-onset anterior polar cataract

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


Phenylephrine does not induce blanching of eye redness

Instillation of 2.5% phenylephrine drops into the eye does not induce blanching of eye redness. Failure to blanch suggests redness caused by scleral vessel engorgement (e.g., scleritis) or extravascular cause (e.g., hemorrhage), not episcleritis or conjunctivitis.


Abnormal pupillary light reflex

An abnormality of the reflex that controls the diameter of the pupil, in response to the intensity of light that falls on the retina of the eye.


Retinal flecks

Presence of multiple yellowish-white lesions of various size and configuration on the retina not related to vascular lesions.


Abnormal foveal morphology on macular OCT


Abnormal automated kinetic perimetry test


Dysmetric saccades

The controller signal for saccadic eye movements has two components: the pulse that moves the eye rapidly from one point to the next, and the step that holds the eye in the new position. When both the pulse and the step are not the correct size, a dysmetric refixation eye movement results.


Superficial episcleral hyperemia

Prominence of blood vessels of the superficial episcleral tissues.


sclerocornea

A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea.


Abnormally large globe

Diffusely large eye (with megalocornea) without glaucoma.


Retinopathy of prematurity zone II

Retinopathy which extends centrifugally from the edge of zone I to the nasal ora serrata.


Abnormal intraocular pressure

An anomaly in the amount of force per unit area exerted by the intraocular fluid within the eye.


Abnormality of central retinal artery

An abnormality of a central retinal artery.


paralytic lagophthalmos

A type of lagophthalmos that occurs in association with facial nerve palsy.


Hypometric saccades

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


Double elevator palsy

A type of incomitant strabismus in which both elevator muscles (i.e., the inferior oblique and superior rectus muscles) of the same eye are weak leading to restricted elevation and hypotropia.


Dilatation of large choroidal vessels

Enlargement of the large blood vessels in the choroid.


Excyclophoria

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 outward (laterally) to each other.


retinoblastoma

A malignant tumor that originates in the nuclear layer of the retina. As the most common primary tumor of the eye in children, retinoblastoma is still relatively uncommon, accounting for only 1% of all malignant tumors in pediatric patients. Approximately 95% of cases are diagnosed before age 5. These tumors may be multifocal, bilateral, congenital, inherited, or acquired. Seventy-five percent of retinoblastomas are unilateral; 60% occur sporadically. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form also appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma.


White eyebrow

White color (lack of pigmentation) of the eyebrow.


Abnormal optic disc morphology

A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination.


Full-thickness macular hole

Full-thickness macular hole (FTMH) is defined as a foveal lesion with interruption of all retinal layers from the internal limiting membrane to the retinal pigment epithelium. Full-thickness macular hole is primary if caused by vitreous traction or secondary if directly the result of pathologic characteristics other than vitreomacular traction. Full-thickness macular hole is subclassified by size of the hole as determined by OCT and the presence or absence of vitreomacular traction.


abnormal pupillary function

A functional abnormality of the pupil.


cicatricial lagophthalmos

A type of lagophthalmos that occurs following trauma or surgery.


Circumlimbal hyperemia

A ring of redness at the limbus of the eye, the border between the cornea and the sclera.


Prominent corneal nerve fibers

Abnormal prominence of the corneal nerve fibers.


Retinopathy of prematurity stage 5a

An open funnel detachment of the retina with generally traction in all four quadrants.


Hypoplastic optic chiasm

Developmental defect characterized by undergrowth of the optic chiasm.


Electronegative electroretinogram

A dark-adapted bright flash electroretinogram in which the b-wave that is of markedly lower amplitude than the associated a-wave (source: Holder GE., Inherited Chorioretinal Dystrophies: A Textbook and Atlas; 2014; p.17; ISBN 978-3-540-69466-3).


Bilateral congenital mydriasis

Congenital abnormal dilation of the pupil on both sides.


Abnormality of the curvature of the cornea


Abnormality of pattern visual evoked potentials


Coats disease

Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children.


Abnormal central response of multifocal electroretinogram


Restrictive external ophthalmoplegia

Fibrosis 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.


Retinopathy of prematurity stage 1

The retinal vessels stop and then a linear flat white line is present that usually runs the circumference of the vascular retina.


choroidal neovascularization

An eye disorder described by the growth of new blood vessels that originate from the choroid through a break in the Bruch membrane into the sub–retinal pigment epithelium (sub-RPE) or subretinal space. Choroidal neovascularization (CNV) is a major cause of visual loss.


Saccular conjunctival dilatations

Presence of multiple dilatations (sac-like outpouchings) in the blood vessels of the conjunctiva.


Vertical nystagmus

Vertical nystagmus may present with either up-beating or down-beating eye movements or both. When present in the straight-ahead position of gaze it is referred to as upbeat nystagmus or downbeat nystagmus.


Impaired smooth pursuit

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


Foveoschisis

Splitting of the retinal layers in the macula.


Abnormality of ciliary ganglion

An abnormality of a ciliary ganglion.


coloboma of macula

Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders.


inherited vitreoretinopathy

Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment.


Superior oblique muscle restriction

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


Mixed astigmatism

A type of astigmatism in which an unequal curvature of the cornea and some cases additionally of the lens causes one meridian of the eye to be hyperopic (farsighted) and a second meridian that is perpendicular to the first to be myopic (nearsighted).


Epicanthus palpebralis

A type of epicanthus in which a medial vertical fold is present between upper and lower lids.


Age-related posterior subcapsular cataract

A type of age-related cataract consisting of granular opacities occurring mainly in the central posterior cortex just under the posterior capsule.


Macular dystrophy

Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident.


Opto-chiasmatic atrophy

Wasting (atrophy) of the optic chiasm.


Vertical incomitant strabismus

A type of incomitant strabismus in which the angle of deviation varies as the patient's gaze shifts upwards and/or downwards.


Multifocal subretinal deposits

Deposits accumulating between the outer retina and the retinal pigment epithelium and that are distributed with multiple foci.


Alternating hypertropia

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


Intraretinal fluid

Edema/fluid accumulating within the retinal layers.


Subretinal hyporeflective spaces on macular OCT


Intraretinal exudate

Retinal exudate within the retinal tissue itself.


entropion

The turning inward (inversion) of the edge of the eyelid, with the tarsal cartilage turned inward toward the eyeball. (Dorland, 27th ed)


Vitreous snowballs

Yellow-white inflammatory aggregates in the vitreous that are found in the midvitreous and inferior periphery.


mechanical entropion

A type of entropion (abnormal inversion of the eyelid towards the globe) that is related to a mass effect of a lesion (e.g., a tumor) that pulls the eyelid margin away from the globe.


Corneal astigmatism

A type of refractive error related abnormal curvatures on the anterior or posterior surface of the cornea.


Uveal ectropion

Presence of iris pigment epithelium on the anterior surface of the iris.


Hypometric upward saccades

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


Descemet Membrane Folds

Presence of folds in the Descemet membrane, which is the basement membrane of the endothelial (inner) cell layer of the cornea. Descemet membrane folds are generally a manifestation of inflammation or edema of the cornea.


Retinopathy of prematurity threshold

A retinopathy with a 50% likelihood of progressing to retinal detachment. Threshold disease is considered to be present when stage 3 retinopathy of prematurity (ROP) is present in either zone I or zone II, with at least 5 continuous or 8 total clock hours of disease, and the presence of plus disease.


Inferior oblique muscle weakness

Decreased strength of the inferior oblique muscle.


Laterally extended eyebrow

An eyebrow that extends laterally beyond the orbital rim rather than turning gently downward at that location.


Sparse eyebrow

Decreased density/number of eyebrow hairs.


Hypertelorism

Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).


Undetectable light- and dark-adapted electroretinogram

Absence of the combined rod-and-cone response on electroretinogram.


lens disorder

A disease involving the lens of camera-type eye.


Restrictive partial external ophthalmoplegia

Fibrosis of only some of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position.


Inferior rectus muscle weakness

Decreased strength of the inferior rectus muscle.


Abnormal ciliary body morphology

A structural anomaly of the ciliary body.


retinal vasculitis

Inflammation of the retinal vasculature with various causes including infectious disease; lupus erythematosus, systemic; multiple sclerosis; behcet syndrome; and chorioretinitis.


Macular dots

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


Solitary congenital hypertrophy of retinal pigment epithelium

Sharply demarcated hyperpigmentation which is congenital found in around 3-5% of the population and of no functional significance.


Aplasia/Hypoplasia of the iris

Absence or underdevelopment of the iris.


Maxillozygomatic hypoplasia

Hypoplasia of the maxillozygomatic complex.


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

A benign neoplasm that involves the eye.


Optic nerve gray crescent

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


lattice corneal dystrophy

The presence of fine, branching linear opacities in Bowman's layer in the central area that may spread to the periphery in the clinical course. The deep corneal stroma may be involved but the process does not reach Descemet's membrane. Recurrent corneal erosion may occur. Histologic examination reveals amyloid deposits in the collagen fibers of the cornea.


Prominence of the zygomatic bone

Large or prominent malar surface of the zygomatic bone of the skull, which is convex and forms the prominence of the 'cheek bones'.


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.


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 anomaly

An abnormality of the optic nerve in which the optic nerve is large and funneled and displays a conical excavation of the optic disc. The optic disc appears dysplastic.


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.


Shallow anterior chamber

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


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.


toxic or nutritional optic neuropathy

A disease with basis in optic nerve damage secondary to a toxic substance and/or nutritional deficiency.


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).


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.


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


Rubeosis iridis

Formation of new blood vessels on the iris. The new vessels do not display the typical radially symmertic growth pattern of normal iris blood vessels, but rather appear disorganized. Rubeosis usually starts from the pupillary border with tiny tufts of dilated capillaries or red spots that can only be appreciated with high magnification.


Abnormal Descemet membrane morphology

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


Leber hereditary optic neuropathy

Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers.


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 persistance 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.


congenital nystagmus

Nystagmus present at birth or caused by lesions sustained in utero or at the time of birth. It is usually pendular, and is associated with albinism and conditions characterized by early loss of central vision. Inheritance patterns may be X-linked, autosomal dominant, or recessive. (Adams et al., Principles of Neurology, 6th ed, p275)


Cornea verticillata

Golden brown or gray deposits with a clockwise, whorl-like distribution in the inferior interpalpebal portion of the cornea.


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.


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.


Abnormal zygomatic arch morphology

An abnormality of the zygomatic arch, also known as the cheek bone.


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 morphology of bony orbit of skull

An abnormality of an orbit of skull.


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.


Abnormal zygomatic bone morphology

An abnormality of the zygomatic bone.


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.


coloboma

An abnormality in which a part of a structure in one or both eyes is missing.


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.


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).


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.


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.


Retinal neovascularization

In wound repair, neovascularization (NV) involves the sprouting of new vessels from pre-existent vessels to repair or replace damaged vessels. In the retina, NV is a response to ischemia. The NV adheres to the inner surface of the retina and outer surface of the vitreous. NV are deficient in tight junctions and hence leak plasma into surrounding tissue including the vitreous. Plasma causes the vitreous gel to degenerate, contract, and eventually collapse which pulls on the retina. Since retinal NV is adherent to both retina and vitreous, as the vitreous contracts the NV may be sheared resulting in vitreous hemorrhage or the NV may remain intact and pull the retina with the vitreous resulting in retinal elevation referred to as traction retinal detachment.


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.


Hypoplasia of the zygomatic bone

Underdevelopment of the zygomatic bone. That is, a reduction in size of the zygomatic bone, including the zygomatic process of the temporal bone of the skull, which forms part of the zygomatic arch.


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.


Visual field defect

An absolute or relative reduction in the extent of the normal field of vision.


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.


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


Malar flattening

Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.


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.


Paralytic ectropion

A type of ectropion associated with orbicularis muscle weakness caused by cranial nerve VII palsy.


astigmatism

Unequal curvature of the refractive surfaces of the eye. Thus a point source of light cannot be brought to a point focus on the retina but is spread over a more or less diffuse area. This results from the radius of curvature in one plane being longer or shorter than the radius at right angles to it. (Dorland, 27th ed)


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.


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.


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


Macular scar

Scar tissue in the macula.


Severe photosensitivity

A severe degree of photosensitivity of the skin.


Eyelid pain

An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eyelid.


Macrosquare-wave jerks

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


Foveal intraretinal hyporeflective spaces on macular OCT


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.


Metamorphopsia

A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank.


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.


esotropia

A form of strabismus in which one or both eyes are deviated medially.


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.


Visual acuity light perception without projection


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.


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.


exudative vitreoretinopathy

Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness.


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)


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.


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.


Choroid hemorrhage

Hemorrhage from the vessels of the choroid.


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.


Upper eyelid retraction

An elevation of the eyelid above the normal level in the primary position.


Absent anterior chamber of the eye

Absence of the anterior chamber of the eye owing to a developmental defect.


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.


nuclear cataract

A cataract (disease) that involves the lens nucleus.


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.


Iris hypopigmentation

An abnormal reduction in the amount of pigmentation of the iris.


Eversion of lateral third of lower eyelids


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.


ankyloblepharon filiforme adnatum-cleft palate syndrome

Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue.


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.


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.


Central opacification of the cornea

Reduced transparency of the central portion of the corneal stroma.


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.


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.


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

The combination of 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.


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.


Lower eyelid retraction

Inferior malposition of the lower eyelid margin without eyelid eversion.


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.


Collier's sign

A unilateral or bilateral eyelid retraction due to midbrain lesions.


Polypoidal choroidal vasculopathy

The presence of aneurysmal polypoidal lesions in the choroidal vasculature. The aneurysmal dilatations, also known as polyps, may be found at subfoveal, juxtafoveal, extrafoveal, peripapillary or even peripheral regions. These polypoidal dilatations may be visible as reddish-orange subretinal nodules during ophthalmoscopic examination. The polypoidal lesions are best detected on indocyanine green angiography (ICGA) and might be associated with a branching vascular network (BVN) of neovascularization.


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.


microphthalmia

Congenital or developmental anomaly in which the eyeballs are abnormally small.


optic choroid disorder

A disease involving the optic choroid.


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


Brow ptosis

Drooping of the upper eyebrow below the superior orbital rim.


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


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.


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).


Abnormal migration of corneal endothelium.


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.