Mizuo phenomenon

description: 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

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

description: 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).


Tristichiasis

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


Posterior Y-sutural cataract

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


Underdeveloped supraorbital ridges

description: Flatness of the supraorbital portion of the frontal bones.


name: Chaotic rapid conjugate ocular movements


description: 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

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


asthenopia

description: Term generally used to describe complaints related to refractive error, ocular muscle imbalance, including pain or aching around the eyes, burning and itchiness of the eyelids, ocular fatigue, and headaches.


Microblepharia

description: Abnormal shortness of the vertical dimensions of the eyelids.


Symblepharon

description: A partial or complete adhesion of the palpebral conjunctiva of the eyelid to the bulbar conjunctiva of the eyeball.


Slow pupillary light response

description: Reduced velocity and acceleration in the pupillary light response.


Cortical pulverulent cataract

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


name: Patchy atrophy of the retinal pigment epithelium

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


Inferior retinal coloboma

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


Epicanthus tarsalis

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


Abnormal trabecular meshwork morphology

description: 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

description: Absence of tear secretion.


Hemeralopia

description: A visual defect characterized by the inability to see as clearly in bright light as in dim light. The word hemeralopia literally means day blindness.


name: Abnormal superior oblique muscle physiology

description: 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

description: 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

description: 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.


Lacrimal gland hypoplasia

description: Underdevelopment of the lacrimal gland.


Distance esotropia

description: 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

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


Dichromacy

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


Wagner disease

description: 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.


Peripapillary atrophy

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


name: Failure of phenylephrine to induce blanching of eye redness

description: 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

description: 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

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


name: Abnormal foveal morphology on macular OCT


name: Abnormal automated kinetic perimetry test


Dysmetric saccades

description: 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.


Thickened Descemet membrane

description: The thickness of the Descement membrane is above the upper limit of normal.


Superficial episcleral hyperemia

description: Prominence of blood vessels of the superficial episcleral tissues.


sclerocornea

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


lens subluxation

description: A partial dislocation of the lens of the eye.


Abnormally large globe

description: Diffusely large eye (with megalocornea) without glaucoma.


Retinopathy of prematurity zone II

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


Congenital extraocular muscle anomaly

description: Congenital abnormality of the extraocular muscles.


Abnormal intraocular pressure

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


Abnormality of central retinal artery

description: An abnormality of a central retinal artery.


Absent extraocular muscles

description: Congenital absence of the extraocular muscles.


paralytic lagophthalmos

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


Hypometric saccades

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


Vertical eyelid laxity

description: Abnormally lax eyelid associated with tissue relaxation, predominantly in the vertical plane. It can be demonstrated by vertical lid pull. Loosening of vertical stabilizing structures (e.g. lower lid retractors) or tarsal atrophy are often present.


Double elevator palsy

description: 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

description: Enlargement of the large blood vessels in the choroid.


Excyclophoria

description: 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.


White eyebrow

description: White color (lack of pigmentation) of the eyebrow.


Abnormal optic disc morphology

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


abnormal pupillary function

description: A functional abnormality of the pupil.


cicatricial lagophthalmos

description: A type of lagophthalmos that occurs following trauma or surgery.


Circumlimbal hyperemia

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


Prominent corneal nerve fibers

description: Abnormal prominence of the corneal nerve fibers.


Retinopathy of prematurity stage 5a

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


Hypoplastic optic chiasm

description: Developmental defect characterized by undergrowth of the optic chiasm.


Electronegative electroretinogram

description: 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

description: Congenital abnormal dilation of the pupil on both sides.


name: Abnormality of the curvature of the cornea


name: Abnormality of pattern visual evoked potentials


name: Abnormal central response of multifocal electroretinogram


Restrictive external ophthalmoplegia

description: 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

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


Saccular conjunctival dilatations

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


Vertical nystagmus

description: 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.


Reduced visual acuity

description: Diminished clarity of vision.


Impaired smooth pursuit

description: 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

description: Splitting of the retinal layers in the macula.


Abnormality of ciliary ganglion

description: An abnormality of a ciliary ganglion.


coloboma of macula

description: 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.


Superior oblique muscle restriction

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


Mixed astigmatism

description: 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

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


name: Age-related posterior subcapsular cataract

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


Opto-chiasmatic atrophy

description: Wasting (atrophy) of the optic chiasm.


Vertical incomitant strabismus

description: 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

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


Alternating hypertropia

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


keratoconus

description: A degenerative, structural disorder of the eye, characterized by a cone-shaped protrusion of the cornea. It may lead to visual disturbances.


Intraretinal fluid

description: Edema/fluid accumulating within the retinal layers.


name: Subretinal hyporeflective spaces on macular OCT


Intraretinal exudate

description: Retinal exudate within the retinal tissue itself.


entropion

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


Vitreous snowballs

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


mechanical entropion

description: 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.


Nocturnal lagophthalmos

description: The inability to close the eyelids during sleep.


Corneal astigmatism

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


Uveal ectropion

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


Hypometric upward saccades

description: 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.


Anterior chamber cells

description: Tiny deposits corresponding to cells floating in the anterior chamber of the eye. This appearance is typically associated with intraocular inflammation leading to breakdown of the blood-aqueous barrier and resulting in an increase in the number of cells and in the aqueous humor. Grading (SUN Working Group) is performed by estimating the number of cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.


Descemet Membrane Folds

description: 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

description: 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

description: Decreased strength of the inferior oblique muscle.


Laterally extended eyebrow

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


Sparse eyebrow

description: Decreased density/number of eyebrow hairs.


name: Undetectable light- and dark-adapted electroretinogram

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


lens disorder

description: A disease involving the lens of camera-type eye.


name: Restrictive partial external ophthalmoplegia

description: 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

description: Decreased strength of the inferior rectus muscle.


Abnormal ciliary body morphology

description: A structural anomaly of the ciliary body.


Macular dots

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


name: Solitary congenital hypertrophy of retinal pigment epithelium

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


Aplasia/Hypoplasia of the iris

description: Absence or underdevelopment of the iris.


Maxillozygomatic hypoplasia

description: Hypoplasia of the maxillozygomatic complex.


cerulean cataract

description: 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

description: A benign neoplasm that involves the eye.


Optic nerve gray crescent

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


name: Abnormality morphology of the macular vasculature

description: Any structural anomaly of the blood vessels of the macula.


Retinal hemorrhage

description: Hemorrhage occurring within the retina.


Retinopathy

description: 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

description: 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.


name: Asymmetrical distribution of pattern reversal visual evoked potentials


lattice corneal dystrophy

description: 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

description: 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

description: 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.


name: Increased vertical cup-to-disc ratio - 0.7

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


Downslanted palpebral fissures

description: The palpebral fissure inclination is more than two standard deviations below the mean.


name: Mild constriction of peripheral visual field

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


name: Anterior synechiae of the anterior chamber

description: Adhesions between the iris and the cornea.


Upper eyelid entropion

description: An inward turning (inversion) of the margin of the upper eyelid.


Secondary esotropia

description: Convergent squint which follows loss or impairment of vision.


Cogan lid twitch

description: Transient eyelid retraction during refixation from down to straight ahead.


Parafoveal fixation

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


Aplastic/hypoplastic lacrimal glands

description: Absence or underdevelopment of the lacrimal gland.


name: Abnormal timing of flash visual evoked potentials


Broad lateral eyebrow

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


Microcornea

description: 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

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


morning glory syndrome

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


name: Abnormality of inferior oblique extraocular muscle

description: An abnormality of an inferior oblique extraocular muscle.


name: Abnormal P50/N95 ratio of pattern electroretinogram


Near esotropia

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


name: Abnormal static automated perimetry test


name: Foveal photoreceptor layer loss on macular OCT


Hypodeviation

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


Hyperdeviation

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


Exodeviation

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


name: Reduced number of corneal endothelial cells

description: A reduction in the number of corneal endothelial cells.


name: Increased vertical cup-to-disc ratio - 1.0

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


Anterior chamber flare

description: An abnormal appearance of the beam of light traveling through the anterior chamber of the eye in a slit lamp examination. The flare is produced by an increased concentration of proteins in the aqueous humor in the anterior chamber.


Broad eyebrow

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


Beaten bronze macular sheen

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


name: posterior polymorphous corneal dystrophy 1

description: 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

description: 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.


name: Central fundal arteriolar microaneurysms

description: 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

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


Orbital schwannoma

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


exotropia

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


Abnormal chorioretinal morphology

description: An abnormality of the choroid and retina.


toxic or nutritional optic neuropathy

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


Persistent pupillary membrane

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


Rotary nystagmus

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


Decreased blink rate

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


name: Abnormal confrontational visual field test


Dermolipoma of the conjunctiva

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


Herpetiform corneal ulceration

description: 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.


name: Asymmetrical distribution of flash visual evoked potentials


Prominent eyelashes

description: 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

description: 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).


name: Abnormal inferior oblique muscle physiology

description: 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.


Abnormal stereopsis

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


Abnormal visual fixation

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


Lateral rectus muscle underaction

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


coloboma of optic nerve

description: A cleft of the optic nerve that extends inferiorly.


name: persistent hyperplastic primary vitreous

description: 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.)


Aplasia/Hypoplasia of the eyelid

description: Absence or underdevelopment of the eyelid.


Corneal foreign body sensation

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


cyclotropia

description: 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

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


Microspherophakia

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


Pseudopapilledema

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


name: Abnormal amplitude of dark-adapted bright flash electroretinogram


Latent myopia

description: The difference between total and manifest myopia.


Impaired ocular adduction

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


Sparse eyelashes

description: Decreased density/number of eyelashes.


name: Complete congenital stationary night blindness


Abnormal Descemet membrane morphology

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


Peripheral fixation

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


Lid lag on downgaze

description: Delayed descent of the upper eyelid on downgaze. Also described by some authors as von Graefe sign.


Subhyaloid hemorrhage

description: 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

description: Anomalous anatomical placement of the eyebrow.


coloboma of superior eyelid

description: 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

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


name: Hyaloid vascular remnant and retrolental mass

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


name: Abnormal dark-adapted dim flash electroretinogram


Macular exudate

description: 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

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


Abnormal conjunctiva morphology

description: An abnormality of the conjunctiva.


Hypermetric downward saccades

description: Overshoot of downward saccadic eye movements.


Chorioretinal lacunae

description: Punched out lesions in the pigmented layer of the retina.


Macular hyperpigmentation

description: Increased amount of pigmentation in the macula lutea.


Setting-sun eye phenomenon

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


Microtropia without identity

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


Anterior chamber cells grade 0.5+

description: 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

description: A deviation from the normal circular shape of the pupil


Punctate cataract

description: A type of cataract with punctate opacities of the lens.


Mildly reduced contrast sensitivity

description: 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

description: 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

description: 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.


Sparse medial eyebrow

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


name: Abnormal light-adapted single flash electroretinogram


name: Pigment deposition in the trabecular meshwork

description: Accumulation of abnormal amounts of pigment within the trabecular meshwork.


Constriction of peripheral visual field

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


Distichiasis

description: Double rows of eyelashes.


red color blindness

description: 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

description: 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.


name: Abnormal amplitude of pattern onset/offset visual evoked potentials


name: Retinal pigment epithelial loss on macular OCT


Oblique astigmatism

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


Hamartoma of the orbital region

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


name: Nasolacrimal sac epithelial papillary carcinoma

description: The malignant epithelial neoplasm with papillary growths in the nasolacrimal sac.


Abnormal zygomatic arch morphology

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


Hypoplasia of eyelid

description: Developmental hypoplasia of the eyelid.


Unilateral microphthalmos

description: A developmental anomaly characterized by abnormal smallness of one eye.


Coralliform cataract

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


angioid streaks

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


Retinopathy of prematurity stage 5

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


Retinal thinning

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


Posterior embryotoxon

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


name: Peripheral tractional retinal detachment

description: Tractional retinal detachment at the periphery of the retina.


name: Abnormal morphology of the choroidal vasculature


Supranuclear ophthalmoplegia

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


Disciform macular scar

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


Macrosaccadic oscillations

description: 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.


Undetectable pattern electroretinogram

description: Absent response to a pattern electroretinogram (PERG).


Retinal cotton wool spot

description: Fluffy white patch on the retina, representing localized areas of dense white swelling of the retinal nerve fiber 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

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


name: Visual acuity light perception with projection


Recurrent external ophthalmoplegia

description: Alternating and recurrent weakness of the external ocular muscles.


name: Abnormal morphology of bony orbit of skull

description: An abnormality of an orbit of skull.


Abnormal visual field test

description: 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

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


telecanthus

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


name: Juvenile posterior subcapsular lenticular opacities


cataract 4 multiple types

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


congenital microcoria

description: 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

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


name: Abnormal lateral rectus muscle physiology

description: A functional anomaly of the lateral rectus muscle.


Subfoveal choroidal neovascularization

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


stenosis of lacrimal punctum

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


Almond-shaped palpebral fissure

description: A shape created by an acute downward arching of the upper eyelid and upward arching of the lower eyelid, toward the medial canthus, which gives the outline of the palpebral fissures the configuration of an almond. Thus, the maximum distance between the fissures is offset from, and medial to, the center point.


Polar cataract

description: 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

description: An abnormality of the zygomatic bone.


Abnormality of the extraocular muscles

description: An abnormality of an extraocular muscle.


name: Decreased Arden ratio of electrooculogram

description: 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.


Horizontal eyelid laxity

description: Abnormally lax eyelid associated with tissue relaxation, predominantly in the horizontal plane. It can be demonstrated by the horizontal eyelid distraction test (e.g. by pulling the eyelid medially and laterally). Medial and/or lateral canthal tendon laxity are often present.


Abnormal eyelid movement

description: An abnormality in voluntary or involuntary eyelid movements or their control.


Coronary cataract

description: A type of cataract characterized 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

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


Optic nerve misrouting

description: 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

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


name: Abnormal morphology of the conjunctival vasculature

description: Any abnormality of the blood vessels of the conjunctiva.


Lower eyelid laxity

description: Abnormally lax lower eyelid associated with tissue relaxation.


Spontaneous lens capsule rupture

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


Spherophakia

description: 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

description: 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

description: Any abnormality of the size or morphology of the cornea.


Peripapillary chorioretinal atrophy

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


Eyelid retraction

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


Compensatory face turn to the right

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


Slowed horizontal saccades

description: An abnormally slow velocity of horizontal saccadic eye movements.


Chronic irritative conjunctivitis

description: 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

description: A progressive form of ptosis.


Achromatic retinal patches

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


name: Abnormal vertical rectus muscle physiology

description: A functional anomaly of the superior or inferior rectus muscle.


Retinopathy of prematurity stage 4b

description: 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.


name: Leakage of dye on fundus fluorescein angiography

description: 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

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


Increased corneal curvature

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


Decreased corneal thickness

description: A decreased anteroposterior thickness of the cornea.


Accessory eyelid

description: The presence of more than the normal number of eyelids.


name: Moderate constriction of peripheral visual field

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


dacryocystocele

description: 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

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


Abnormal eyebrow morphology

description: An abnormality of the eyebrow.


Undetectable electroretinogram

description: Lack of any response to stimulation upon electroretinography.


Abnormal saccadic eye movements

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


Reduced visual accommodation

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


Sparse lateral eyebrow

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


Cherry red spot of the macula

description: 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

description: Presence of nodules in the conjunctiva of the eye.


Superior rectus muscle underaction

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


Severely reduced contrast sensitivity

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


hordeolum externum

description: 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

description: Sudden-onset episode of abnormal, involuntary eye movements.


Membranous vitreous appearance

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


Beaded vitreous appearance

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


Anterior chamber flare grade 2+

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


Enlarged lacrimal glands

description: Abnormally big lacrimal glands.


coloboma of iris

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


Nystagmus-induced head nodding

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


Hyperautofluorescent macular lesion

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


Sutural cataract

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


Scleral staphyloma

description: 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

description: 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

description: Horizontal nystagmus dating from or present at birth.


Hypoplasia of the zygomatic bone

description: 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.


Hemorrhage of the eye

description: Bleeding from vessels of the various tissues of the eye.


Upbeat nystagmus

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


Decreased corneal sensation

description: Reduced ability of the cornea to respond to stimulation.


name: Globe retraction and deviation on abduction


Slow saccadic eye movements

description: An abnormally slow velocity of the saccadic eye movements.


Absent eyelashes

description: Lack of eyelashes.


Posterior retinal neovascularization

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


Abnormality of ocular abduction

description: An abnormality involving the movement of the eye outwards.


Ocular flutter

description: 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 behavior and its occurrence may be favored by various events, such as blinks, the triggering of normal saccades or optokinetic stimulation.


Hooded eyelid

description: Eyelid partly covered by skin when eyes are open.


Subretinal exudate

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


Marcus Gunn pupil

description: 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

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


Subretinal deposits

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


Fully accomodative esotropia

description: 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.


name: Incomplete congenital stationary night blindness


coloboma of inferior eyelid

description: 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

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


blue color blindness

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


Saccadic smooth pursuit

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


Retinopathy of prematurity stage 3

description: 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

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


Sectoral retinitis pigmentosa

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


name: Abnormal retinal nerve fiber layer morphology

description: A structural abnormality of the retinal nerve fiber layer


Double depressor palsy

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


name: Amyloid deposition in the vitreous humor

description: 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+

description: 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

description: A unilateral form of ptosis.


Retinopathy of prematurity pre-plus

description: 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

description: Increased lacrimation owing to overproduction of tears.


Asymmetry of iris pigmentation

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


name: Abnormal Humphrey SITA 10-2 perimetry test


Malar flattening

description: 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

description: 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.


Anterior chamber flare grade 3+

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


Hypoplasia of the iris dilator muscle

description: Underdevelopment of the dilatator pupillae.


Thinning of Descemet membrane

description: A reduction in the thickness of Descemet's membrane.


Abnormal electrooculogram

description: 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

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


senile entropion

description: 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.


Lenticonus

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


Hemolacria

description: The presence of blood in tears.


Iris nodule

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


Consecutive esotropia

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


Paralytic ectropion

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


name: Palpebral fissure narrowing on adduction


astigmatism

description: 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

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


Epicanthus

description: 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

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


Absent foveal reflex

description: 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.


name: Abnormal superior rectus muscle physiology

description: 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.


Lacrimal punctal atresia

description: Congenital absence or closure of the opening of the lacrimal punctum.


Compensatory head posture

description: 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.


Abnormal lacrimal gland morphology

description: Abnormality of the lacrimal gland, i.e., of the almond-shaped gland that secretes the aqueous layer of the tear film for each eye.


name: combined hamartoma of the retina and retinal pigment epithelium

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


Meesmann corneal dystrophy

description: 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.


oculomotor nerve paralysis

description: Paralysis of the oculomotor nerve.


Fundus hemorrhage

description: Bleeding within the fundus of the eye.


Loss of eyelashes

description: This term refers to the loss of eyelashes that were previously present.


Hypoplasia of the lower eyelids

description: Underdevelopment of the lower eyelid.


name: Decreased light- and dark-adapted electroretinogram amplitude

description: Descreased amplitude of eletrical response upon electroretinography.


Staring gaze

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


Superior oblique muscle underaction

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


name: Extension of eyebrows towards upper eyelid

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


epiblepharon

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


Lateral rectus muscle overaction

description: 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

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


Abnormality of macular pigmentation

description: Abnormality of macular or foveal pigmentation.


Macular microaneurysm/hemorrhage

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


Monocular strabismus

description: 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

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


Inferior oblique muscle underaction

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


cicatricial ectropion

description: 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

description: A structural abnormality of retinal vasculature.


Levator palpebrae superioris atrophy

description: Atrophy of the levator palpebrae superioris, the extraocular muscle that elevates the superior eyelid.


Corneal guttata

description: 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

description: 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.


name: Foveal hyporeflective spaces on macular OCT


Cyst of the eyelid

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


name: Difficulty adjusting to changes in luminance


Retinal hamartoma

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


Retinopathy of prematurity stage 2

description: 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

description: 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.


name: Abnormal amplitude of light-adapted single flash electroretinogram


Narrow palpebral fissure

description: Reduction in the vertical distance between the upper and lower eyelids.


Macular scar

description: Scar tissue in the macula.


Eyelid pain

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


Macrosquare-wave jerks

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


name: Foveal intraretinal hyporeflective spaces on macular OCT


Pseudoglioma

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


Severe photosensitivity

description: A severe degree of photosensitivity of the skin.


Esodeviation

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


Horizontal eyebrow

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


Phakodonesis

description: Tremulousness (trembling) of the lens of the eye.


Abnormality of lens shape

description: An abnormal shape of the lens.


name: Posterior corneal stroma punctiform multicolored opacities

description: 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

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


Vitreous hemorrhage

description: Bleeding within the vitreous compartment of the eye.


Metamorphopsia

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


Microphakia

description: Abnormal smallness of the lens.


name: Abnormality of chorioretinal pigmentation


Nasolacrimal sac papilloma

description: Benign tumor of the nasolacrimal sac.


internuclear ophthalmoplegia

description: 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

description: An abnormality of the eyelids.


ectopia pupillae

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


Lacrimal gland aplasia

description: A congenital defect of development characterized by absence of the lacrimal gland.


name: Abnormal light-adapted flicker electroretinogram


Retinopathy of prematurity plus

description: 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.


name: Aplasia/Hypoplasia affecting the anterior segment of the eye

description: Absence or underdevelopment of the anterior segment of the eye.


Periorbital dermoid cyst

description: A cyst that is localized in the region of the orbit and exhibits an epithelial lining with a keratin-filled lumen. Hair follicles are one of the adnexal structures that are commonly found in walls of dermoid cysts.


Gustatory lacrimation

description: Gustatory lacrimation results from an aberrant innervation of fibers 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.


cataract 2, multiple types

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


Lacrimal duct atresia

description: A developmental disorder of the lacrimal drainage system that most often affects the lacrimal ostium and resulting in non-opening of the nasolacrimal duct. It usually results from a non-canalization of the nasolacrimal duct.


name: Optic atrophy from cranial nerve compression


Sub-inner limiting membrane hemorrhage

description: 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

description: Absence or underdevelopment of the eyebrow.


name: Visual acuity light perception without projection


Preretinal hemorrhage

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


Alternating hypophoria

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


With the rule astigmatism

description: 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

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


name: Foveal retinal pigment epithelial loss on macular OCT


Ciliary body coloboma

description: A coloboma of the ciliary body.


name: Ultra-low vision with retained light projection

description: 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

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


Conjunctival papillae

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


Absent corneal reflex

description: 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.


name: congenital fibrosis of extraocular muscles

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


Upslanted palpebral fissure

description: The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.


Corneal perforation

description: A rupture of the cornea through which a portion of the iris protrudes.


name: Abnormal timing of pattern electroretinogram


optic disk drusen

description: 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)


Upper eyelid laxity

description: Abnormally lax upper eyelid associated with tissue relaxation.


Dermatochalasis

description: Loss of elasticity of the upper and lower eyelids causing the skin to sag and bulge.


staphyloma posticum

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


Eyelid laxity

description: Abnormally lax eyelid associated with tissue relaxation; it can be demonstrated by the eyelid distraction test and/or the eyelid snap test.


Bone spicule pigmentation of the retina

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


Conjunctival membrane

description: 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

description: 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.


name: Central retinal vessel vascular tortuosity

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


Hamartoma of the eye

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


Choroid hemorrhage

description: Hemorrhage from the vessels of the choroid.


name: Nonprogressive restrictive external ophthalmoplegia

description: 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.


name: Abnormal common tendinous ring morphology

description: Any anomaly of the ring of fibrous tissue that surrounds the optic nerve at its entrance at the apex of the orbit. The common tendinous ring, also known as the annulus of Zinn or annular tendon, is the origin for five of the seven extraocular muscles.


Abnormal oblique muscle physiology

description: A functional anomaly of the inferior or superior oblique muscle.


Upper eyelid retraction

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


Ocular hypertension

description: Intraocular pressure that is 2 standard deviations above the population mean.


Absent anterior chamber of the eye

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


Conjunctival icterus

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


Anterior chamber red blood cells

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


Capsular cataract

description: A cataract that affects the capsule of the lens.


Abnormal size of the palpebral fissures

description: An abnormal size of the palpebral fissures for example unusually long or short palpebral fissures.


Nasolacrimal sac granuloma

description: A mass of granulation tissue in response to chronic dacryocystitis as polypoid formations or they follow accidental injury, from probing and as a reaction to retained foreign bodies in the sac.


Retinopathy of prematurity stage 4

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


Abnormal electroretinogram

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


Macular cotton wool spot

description: Fluffy white patch on the macula, representing localized areas of dense white swelling of the retinal nerve fiber 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

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


Iris hypoperfusion

description: Reduction in the amount of blood flow to the iris.


Ocular melanocytosis

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


Anterior chamber flare grade 1+

description: Faint anterior chamber flare.


coloboma of eyelid

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


Hyperopic astigmatism

description: 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

description: An abnormal increase in the ratio of the height of the cup of the optic nerve head to the height of the disk.


Constant exotropia

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


Hypometric horizontal saccades

description: 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

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


name: Eversion of lateral third of lower eyelids


description: 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

description: 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

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


name: ankyloblepharon filiforme adnatum-cleft palate syndrome

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


Horizontal jerk nystagmus

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


paralytic strabismus

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


Inferior rectus muscle underaction

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


Anterior lenticonus

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


Abnormal macular morphology

description: A structural abnormality of the macula lutea, which is an oval-shaped highly pigmented yellow spot near the center of the retina.


Heliotrope rash of eyelid

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


name: Ultra-low vision with retained light perception

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


Compensatory face turn to the left

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


Iridodonesis

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


Abnormal nasolacrimal system morphology

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


name: Multiple bilateral congenital hypertrophy of retinal pigment epithelium

description: Sharply demarcated hyperpigmentation which is congenital.


Concomitant strabismus

description: 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

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


Near exotropia

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


blepharochalasis

description: 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

description: Limited mobility of the eye within its socket.


Absent lower eyelashes

description: Lack of eyelashes on the lower lid.


Abnormal ocular alignment

description: Any deviation from the normal ocular alignment.


Blurred vision

description: Lack of sharpness of vision resulting in the inability to see fine detail.


Compensatory chin depression

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


Lateral rectus muscle weakness

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


Conjunctival whitish salt-like deposits

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


Optic nerve arteriovenous malformation

description: 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

description: Partial displacement of the lens in the inferior direction.


Photoreceptor layer loss on macular OCT

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


Kayser-Fleischer ring

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


Heterophoria

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


Brief tear break-up time

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


Trichiasis

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


Paroxysmal tonic upgaze

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


ectropion

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


Abnormal corneal reflex

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


Holmes-Adie syndrome

description: 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.


name: Abnormal light- and dark-adapted electroretinogram

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


Abnormal pupil morphology

description: An abnormality of the pupil.


Eccentric visual fixation

description: 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

description: Decreased diameter of eyebrow hairs.


Corneolenticular adhesion

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


Highly arched eyebrow

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


Posterior cortical cataract

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


hyperpigmentation of eyelid

description: Over-production of pigment in the eyelid.


Spasmus nutans

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


name: Compensatory head tilt to the left shoulder

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


name: Abnormal posterior eye segment morphology


Incyclophoria

description: 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

description: Meeting of the medial eyebrows in the midline.


name: Abnormal Vistech contrast sensitivity test

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


Corneopalpebral synechiae

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


Central opacification of the cornea

description: Reduced transparency of the central portion of the corneal stroma.


Oval pupil

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


Abnormal shape of the palpebral fissure

description: The presence of an abnormal shape of the palpebral fissure.


Opsoclonus

description: Bursts of large-amplitude multidirectional saccades without intersaccadic interval


name: Increased Arden ratio of electrooculogram

description: 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

description: 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

description: Inferior malposition of the lower eyelid margin without eyelid eversion.


Incomitant strabismus

description: 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

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


Abnormal extraocular muscle physiology

description: A functional anomaly of the muscles of the eye.


Dull foveal reflex

description: 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

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


Collier's sign

description: A unilateral or bilateral eyelid retraction due to midbrain lesions.


Hypopigmentation of the fundus

description: Reduced pigmentation of the fundus, typically generalized. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid).


Asteroid hyalosis

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


Anomalous trichromacy

description: 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.


Dacrolith

description: Dacryolith is a concretion (accumulation of sediment) within the nasolacrimal system.


optic choroid disorder

description: A disease involving the optic choroid.


White eyelashes

description: White color (lack of pigmentation) of the eyelashes.


Hyperpigmentation of the fundus

description: Increased pigmentation of the fundus


name: Abnormal Humphrey SITA 24-2 perimetry test


Brow ptosis

description: Drooping of the upper eyebrow below the superior orbital rim.


Cyclic esotropia

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


Band keratopathy

description: 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

description: Generalized reduced transparency of the stroma of the cornea.


hordeolum

description: An acute, localized swelling of the eyelid that may be external or internal and usually is a pyogenic (typically staphylococcal) infection or abscess.


name: Abnormal timing of light-adapted single flash electroretinogram


Hyperautofluorescent retinal lesion

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


name: Abnormal suspensory ligament of lens morphology

description: 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

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


Infantile constant esotropia

description: 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

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


description: 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.


Spontaneous rupture of the globe

description: Rupture of the eyeball not due to trauma.


Abnormal rectus muscle physiology

description: A functional anomaly of a vertical or horizontal rectus muscle.


Optically empty vitreous

description: 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

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


Retinal calcification

description: Deposition of calcium salts in the retina.


Anterior chamber cells grade 3+

description: 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.


name: Irregular central macular autofluorescence


snowflake vitreoretinal degeneration

description: 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

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


Anterior chamber flare grade 4+

description: Intense anterior chamber flare (fibrin/plastic aqueous).


name: Oil-drop brown pigmentation of the corneal limbus

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


description: Abnormal migration of corneal endothelium.


Absent eyebrow

description: Absence of the eyebrow.


Retinal nonattachment

description: Failure of attachment of the retina during development.


Lamellar pulverulent cataract

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


name: Posterior crocodile shagreen of the cornea

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


Abnormality of the ocular adnexa

description: 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

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


Thick eyebrow

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


cicatricial entropion

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


Protanopia

description: Blue and green cones only; no functional red cones.


Conjunctival dermolipoma

description: 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 millimeters posterior to the limbus.


pulverulent cataract

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


Posterior polar cataract

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


Abnormality of corneal thickness

description: An abnormal anteroposterior thickness of the cornea.


Punctate opacification of the cornea

description: Punctate opacification (reduced transparency) of the corneal stroma.


name: Abnormal anterior eye segment morphology

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


Limbal edema

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


Perifoveal hypoautofluorescence

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


name: Abnormal distribution of retinal arterioles and venules


cone dystrophy

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


Vitreomacular adhesion

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


Retinal arterial macroaneurysms

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


Abnormal corneal endothelium morphology

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


Progressive external ophthalmoplegia

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


name: Increased vertical cup-to-disc ratio - 0.8

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


name: Foveal inner retinal layer loss on macular OCT


Dysmetric horizontal saccades

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


Collarettes

description: Buildup of waxy flesh-colored scales on the margin of the eyelid.


enophthalmos

description: Abnormal recession of the eyeball within the eye socket.


Focal subretinal deposits

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


Lateral rectus muscle restriction

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


Inferior chorioretinal coloboma

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


Scleral thickening

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


Adult-onset night blindness

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


Abnormality of foveal pigmentation

description: An anomaly of the pigmentation in the fovea centralis.


Ectopic cilia of eyelid

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


Keratoglobus

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


Incyclotropia

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


Macular flecks

description: Pale often indistinct lesions of the macula.


Medial canthal tendon laxity

description: Laxity of the tendon stabilizing the medial aspect of the tarsal plate to the anterior and posterior lacrimal crests. This may lead to more than 2mm movement of the punctum when the eyelid is pulled laterally.


Alternating hyperphoria

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


Abnormal visual accommodation

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


Deep episcleral hyperemia

description: Prominence of blood vessels of the deep episcleral tissues.


Iris pigment dispersion

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


Against the rule astigmatism

description: Astigmatism with more plus power on the horizontal meridian.


Infantile constant exotropia

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


Burning eye sensation

description: A feeling of stinging or irritation of the eyes.


Increased axial length of the globe

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