hyperparathyroidism 2 with jaw tumors

An autosomal dominant inherited syndrome characterized by the development of parathyroid adenoma or carcinoma, ossifying fibroma of the mandible and maxilla, renal neoplasms, and renal cysts.


Anandamide

An N-acylethanolamine 20:4 resulting from the formal condensation of carboxy group of arachidonic acid with the amino group of ethanolamine.


Adult Acute Eosinophilic Leukemia

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

An acute eosinophilic leukemia occurring in adults.


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

An abnormal increase in the number of mitochondria per cardiac myocyte.


teeth, supernumerary

An extra tooth, erupted or unerupted, resembling or unlike the other teeth in the group to which it belongs. Its presence may cause malposition of adjacent teeth or prevent their eruption.


Mesiodens

A supernumerary tooth in the midline between the maxillary central incisors.


Supernumerary maxillary incisor

The presence of a supernumerary, i.e., extra, maxillary incisor, either the primary maxillary incisor or the permanent maxillary incisor.


chromosome 4q21 deletion syndrome

The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech.


Metastatic Ovarian Serous Adenocarcinoma

Ovarian serous adenocarcinoma that has spread from its original site of growth to another anatomic site.


Unresectable Ovarian Serous Adenocarcinoma

Ovarian serous adenocarcinoma that is not amenable to surgical resection.


Unresectable Ovarian High Grade Serous Adenocarcinoma

Ovarian high-grade serous adenocarcinoma that is not amenable to surgical resection.


high grade serous adenocarcinoma of ovary

A rapidly growing serous adenocarcinoma that arises from the ovary. It is characterized by the presence of high grade cytologic features and frequent mitotic figures.


Refractory Ovarian Low Grade Serous Adenocarcinoma

Ovarian low-grade serous adenocarcinoma that is resistant to treatment.


low grade serous adenocarcinoma of ovary

A slow-growing serous adenocarcinoma that arises from the ovary.  It usually originates from borderline neoplastic processes or adenofibromas.  It is characterized by the presence of low grade cytologic features and infrequent mitotic figures.


Recurrent Ovarian High Grade Serous Adenocarcinoma

The reemergence of ovarian high-grade serous adenocarcinoma after a period of remission.


Metastatic Ovarian Serous Cystadenocarcinoma

Ovarian serous cystadenocarcinoma that has spread from the original site of growth to other anatomic sites.


Recurrent Ovarian Low Grade Serous Adenocarcinoma

The reemergence of ovarian low-grade serous adenocarcinoma after a period of remission.


Advanced Ovarian Serous Cystadenocarcinoma

Ovarian serous cystadenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Locally Advanced Ovarian Serous Cystadenocarcinoma

Ovarian serous cystadenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.


Advanced Ovarian Serous Adenocarcinoma

Ovarian serous adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Refractory Ovarian High Grade Serous Adenocarcinoma

Ovarian high-grade serous adenocarcinoma that is resistant to treatment.


Refractory Ovarian Serous Adenocarcinoma

Ovarian serous adenocarcinoma that is resistant to treatment.


Metastatic Ovarian High Grade Serous Adenocarcinoma

Ovarian high-grade serous adenocarcinoma that has spread from its original site of growth to another anatomic site.


Recurrent Ovarian Serous Adenocarcinoma

The reemergence of ovarian serous adenocarcinoma after a period of remission.


Locally Advanced Ovarian Serous Adenocarcinoma

Ovarian serous adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.


Recurrent Ovarian Serous Cystadenocarcinoma

The reemergence of ovarian serous cystadenocarcinoma after a period of remission.


Locally Advanced Unresectable Ovarian High Grade Serous Adenocarcinoma

Ovarian high-grade serous adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.


Hypocholesterolemia

An decreased concentration of cholesterol in the blood.


Decreased VLDL cholesterol concentration

A reduction in the amount of very-low-density lipoprotein cholesterol in the blood.


mitochondrial complex III deficiency nuclear type 8

Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the LYRM7 gene.


GTPase KRas isoform 2A (human)

A GTPase KRas isoform 1 that is encoded in the genome of human.


GTPase KRas isoform 2B (human)

A GTPase KRas isoform 2 that is encoded in the genome of human.


Delayed ossification of the trapezium

Formation of bone tissue of trapezium is less than expected for age.


Childhood Acute Myeloid Leukemia with NUP98 Rearrangement

An acute myeloid leukemia that occurs in childhood and is characterized by the rearrangement of the NUP98 gene.


Acute Megakaryoblastic Leukemia with NUP98-KDM5A

A non-Down syndrome acute megakaryoblastic leukemia that occurs in childhood. It is associated with t(11;12)(p15;p13) which results in the presence of NUP98-KDM5A chimeric oncogene.


acute myeloid leukemia, t(5;11)(q35;p15)

Any acute myeloid leukemia that has the chromosomal anomaly t(5;11)(q35;p15). (A cytogenetic abnormality that refers to the translocation of chromosome 11p15 with chromosome 5q35. It results in the formation of NUP98/NSD1 fusion gene. It is associated with the development of acute myeloid leukemia with t(5;11)(q35;p15); NUP98-NSD1.)


acute myeloid leukemia, t(11;15)(p15;q35)

Any acute myeloid leukemia that has the chromosomal anomaly t(11;15)(p15;q35). (A cytogenetic abnormality that refers to the translocation of chromosome 11p15 with chromosome 15q35. It results in the formation of NUP98/JARID1A fusion gene. It is associated with the development of acute myeloid leukemia with t(11;15)(p15;q35); NUP98-JARID1A.)


Stage IIB Pancreatic Cancer AJCC v6 and v7

Stage IIB includes: (T1, N1, M0); (T2, N1, M0); (T3, N1, M0).  T1: Tumor limited to the pancreas, 2 cm or less in greatest dimension.  T2: Tumor limited to the pancreas, more than 2 cm in greatest dimension. T3: Tumor extends beyond the pancreas but without involvement of the celiac axis or the superior mesenteric artery.  N1: Regional lymph node metastasis.  M0: No distant metastasis. (from AJCC 7th Ed.)


X-linked adrenal hypoplasia congenita

A X-linked condition characterized by underdevelopment of the adrenal gland and adrenal insufficiency caused by mutation(s) in the NR0B1 gene, resulting in decreased activity of the nuclear receptor protein DAX1, which may be associated with hypogonadotropic hypogonadism.


Adrenal medullary hypoplasia

Developmental hypoplasia of the adrenal medulla.


Adrenal hypoplasia

Developmental hypoplasia of the adrenal glands.


serine/threonine-protein kinase PAK 3 isoform 2 (human)

A serine/threonine-protein kinase PAK 3 isoform 2 that is encoded in the genome of human.


Anterior chamber cells grade 2+

Anterior chamber cells with 16-25 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.


Abnormal timing of dark-adapted dim flash electroretinogram


Retinal peau d'orange

A pebbly orange appearance of the fundus that is said to resemble the skin of an orange.


uveal melanoma

A melanoma derived from melanocytes of the uveal tract. It is the most common primary intraocular tumor in the United States and Western Europe. Similar to melanoma of the skin, it is rare in Africa and Asia. Diagnostic procedures include ophthalmoscopic exam, fluorescein angiography and ultrasound. Treatment includes: surgical excision of the eye, iridocyclectomy and tumor resection. Recent treatments also include radiotherapy or photo coagulation. Classification of uveal melanomas recognizes four cell types within these tumors: epithelioid, intermediate, mixed cell, and spindle cell types. The spindle cell type uveal melanomas are further sub-classified as spindle cell type A and spindle cell type B.


Abnormal flash visual evoked potentials

Anomaly of the visual evoked potentials elicited by a flash stimulus, generally a flash of light subtending an angle of at least 20 degrees of the visual field and presented in a dimly lit room.


Hypophoria

A form of latent strabismus (heterophoria) in which, on dissociation, the occluded eye deviates downwards.


Abnormal sclera morphology

An abnormality of the sclera.


Pattern dystrophy of the retina

A spectrum of fundoscopic appearances characterized by the development of a variety of patterns of deposits predominantly in the macular area. The deposits are typically bilateral, relatively symmetrical, yellow/white and associated with changes at the level of the retinal pigment epithelium. With time, retinal atrophy may occur. A number of pattern dystrophy subtypes have been described including butterfly-shaped dystrophy, reticular dystrophy (net-like pattern) and fundus pulverulentus (granular, mottled pigmentation).


cryptophthalmia

A congenital abnormality characterized by the presence of a continuous layer of skin extending over the eyeballs and the absence of eyelids and the palpebral fissure.


Subconjunctival hemorrhage

Bleeding beneath the mucous membrane that lines the inner surface of the eyelid.


cone-rod dystrophy

Inherited retinal dystrophies that belong to the group of pigmentary retinopathies.


Inferior rectus muscle restriction

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


Consecutive exotropia

Exotropia in an individual who has previously had esotropia or esophoria.


Cone monochromacy

The condition of having both rods and cones, but only a single kind of cone. Affected individuals have good pattern vision in daylight, but cannot distinguish between colors.


Chorioretinal scar

Fibrous connective tissue resulting from incomplete healing of a wound (i.e., a scar) located in the choroid and retina or the eye.


ptosis, hereditary congenital, 1

Congenital ptosis is characterized by superior eyelid drop present at birth.


Abnormal blink rate

A deviation from the normal frequency of blinking the eye.


Branch retinal vein occlusion

Blockage of a branch of the retinal vein. It may present with sudden-onset of painless vision loss or visual field defect correlating to the area of perfusion of the obstructed vessels.


Axial myopia

A form of myopia related to an axial length above the norm and too long for the refractive power of the whole optical system of the eye.


Anterior chamber cyst

A closed sac, having a distinct membrane and division compared to the nearby tissue located within the anterior chamber. The sac that may contain air, fluids, or semi-solid material.


band keratopathy

The deposition of calcium on the cornea, resulting in pain and decreased visual acuity.


Foveal degeneration

Deterioration of the tissue of the fovea, i.e.,the region of sharpest vision within the macula of the retina.


Macular hypopigmentation

Decreased amount of pigmentation in the macula lutea.


Basic constant esotropia

A form of convergent strabismus (esotropia) in which the deviation is present under all conditions (ie at all distances and at all times).


Abnormal ocular adnexa morphology

A structural 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.


Abnormality iris morphology

An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil.


Lymphangioma of the orbit

A hamartoma of lymph vessels that usually presents in childhood. It tends to increase in size with head-down posture and with the Valsalva manoeuvre. Superficial lesions are visible as transilluminable cystic spaces of the lid or conjunctiva that may also contain blood. Deep lesions may cause gradual proptosis or present acutely with orbital pain and reduced vision due to haemorrhage.


Retinal arteriolar occlusion

Blockage of retinal arteriole, generally associated with interruption of blood flow and oxygen delivery to affected regions of the retina.


Koeppe nodules

A type of iris nodule consisting of inflammatory cell precipitates which lie at the pupillary margin.


Abnormal vitreous humor morphology

Any structural anomaly of the vitreous body.


Megalopapilla

A congenitally anomalous enlarged optic disk (surface area greater than 2.50 square millimeters). It is considered to be a normal variant without physiological defects.


Optic disc pallor

A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.


Simulated distance exotropia

Exotropia (intermittent or constant) worse for distance fixation in which the near angle of deviation increases (or near exophoria becomes exotropia) with: (1) prolonged disruption of fusion and/or (2) elimination of accommodation.


Supernormal dark-adapted bright flash electroretinogram b-wave


inherited retinal dystrophy

An instance of retinal degeneration that is caused by an inherited modification of the individual's genome.


Very low visual acuity

A reduction in visual acuity with best corrected visual acuity between 1.40 (20/500) and 1.89 logMAR (up to roughly 20/1590).


Upper eyelid edema

Edema in the region of the upper eyelid.


Scleral rupture

Breakage of the sclera.


Anterior cortical cataract

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


Retinal hole

A small break in the retina.


Diffuse nuclear cataract

Opacity of the entire lens nucleus.


Brown syndrome

Brown syndrome is a rare eye disorder characterized by defects in eye movements caused by abnormalities of the superior oblique tendon sheath of the superior oblique muscle.


Vertical supranuclear gaze palsy

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


Multifocal sub-RPE deposits

Deposits accumulating between the retinal pigment epithelium and Bruch's membrane and that are distributed in multiple foci.


Central posterior corneal opacity

Reduced transparency of the central posterior portion of the corneal stroma.


Lamellar cataract with riders

Lamellar cataracts with associated linear lens opacities radially extending towards the periphery of the lens.


Medial flaring of the eyebrow

An abnormal distribution of eyebrow hair growth in the medial direction.


Hemiretinal vein occlusion

A variant of central retinal vein occlusions that involves the superior or inferior half of the retina.


achromatopsia 2

Achromatopsia 2 is a condition that affects the color vision. Most people have complete achromatopsia which is characterized by a total absence of color vision (only able to see black, white and shades of gray). Rarely, affected people may have incomplete achromatopsia which is associated with some color discrimination. Other common signs and symptoms include reduced visual acuity, involuntary back-and-forth eye movements, increased sensitivity to light (photophobia), and hyperopia (farsightedness). Achromatopsia 2 is caused by changes (mutations) in the CNGA3 gene and is inherited in an autosomal recessive manner. Although color discrimination cannot be improved, treatments are available to address some of the other associated symptoms.


autosomal recessive pericentral pigmentary retinopathy

A retinitis pigmentosa that is characterized autosomal recessive inheritance of pigmentary retinal degeneration with onset in the infancy but slower rates of progression than other forms of retinopathy.


Deuteranomaly

A type of anomalous trichromacy associated with abnormal M photopigment, such that the absorption spectrum is shifted toward L wavelengths. Affected individuals have difficulties distinguishing between red and green.


Sub-RPE deposits

Deposits accumulating between the retinal pigment epithelium and Bruch's membrane.


Increased corneal thickness

A increased anteroposterior thickness of the cornea.


anisometropia

A condition of an inequality of refractive power of the two eyes.


Ectopic fovea

An abnormal anatomic position of the fovea, the small, central pit composed of closely packed cones that is located in the macula of the retina.


Hypoplasia of the iris

Congenital underdevelopment of the iris.


preretinal fibrosis

A membrane on the vitreal surface of the retina resulting from the proliferation of one or more of three retinal elements: (1) fibrous astrocytes; (2) fibrocytes; and (3) retinal pigment epithelial cells. Localized epiretinal membranes may occur at the posterior pole of the eye without clinical signs or may cause marked loss of vision as a result of covering, distorting, or detaching the fovea centralis. Epiretinal membranes may cause vascular leakage and secondary retinal edema. In younger individuals some membranes appear to be developmental in origin and occur in otherwise normal eyes. The majority occur in association with retinal holes, ocular concussions, retinal inflammation, or after ocular surgery. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p291)


Geographic atrophy

Sharply demarcated area of partial or complete depigmentation of the fundus reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss. The margins of the de-pigmented area are usually scalloped and the large choroidal vessels are visible through the atrophic retinal pigment epithelium.


Focal necrotic optic nerve lesion

A localized area of cell death, often accompanied by infiltration of inflammatory cells, in the optic nerve.


Abnormal foveal morphology

An abnormality of the fovea centralis, the central area of the macula that mediates central, high resolution vision and contains the largest concentration of cone cells in the retina.


Dissociated vertical deviation

An incomitant tendency for an occluded eye to elevate and extort which resolves on uncovering.


limbal stem cell deficiency

A condition characterized by a loss or deficiency of the stem cells in the limbus that are vital for re-population of the corneal epithelium and to the barrier function of the limbus.


Opacification of the corneal stroma

Reduced transparency of the stroma of cornea.


internal hordeolum

A hordeolum that results from infection of a meibomian gland.


pinguecula

A yellowish thickened lesion on the conjunctiva near the cornea representing a benign degenerative change in the conjunctiva caused by the leakage and deposition of certain blood proteins through the permeable capillaries near the limbus.


Placoid macular lesion

Yellow/white, sharply delineated lesion, typically of inflammatory nature, involving the macula.


Increased vertical cup-to-disc ratio - 0.6

Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.6 (The normal cup-to-disc ratio is 0.3).


Lentiglobus

Exaggerated curvature of the lens of the eye, producing an anterior or posterior spherical bulging.


Diffuse optic disc pallor

A pale yellow discoloration of the entire optic disc.


Corneal keratic precipitates

An inflammatory cellular deposit deposited on the corneal endothelium and visible as spots on the cornea.


Microtropia

A small angle heterotropia (usually of 10 diopters or less) in which a form of binocular single vision occurs.


birdshot chorioretinopathy

Birdshot chorioretinopathy is a posterior uveitis characterized by multiple cream-colored, hypopigmented choroidal lesions in the fundus and a strong association with HLA-A29 and clinically presenting with blurred vision, floaters, photopsia, scotoma and nyctalopia.


Abnormal amplitude of flash visual evoked potentials


Abnormal conjugate eye movement

Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object.


Abnormal best corrected visual acuity test


Corneal stromal edema

Abnormal accumulation of fluid and swelling of the stroma of cornea.


Age-related cortical cataract

A type of age-related cataract that primarily affects the cortex of the lens.


Medial rectus muscle restriction

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


Abnormal anterior chamber morphology

Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris.


Vertical orbital dystopia

The orbits do not lie on the same horizontal plane, that is, one eye is lower than the other.


Deuteranopia

Complete lack of the M photopigment, which is replaced with the L photopigment. Affected individuals tend to confuse red and green.


alternating esotropia

Esotropia in which either eye may be used for fixation.


Foveal hyperpigmentation

Increased amount of pigmentation in the fovea centralis.


Anterior subcapsular cataract

A type of cataract affecting the anterior pole of lens immediately adjacent to ('beneath') the lens capsule.


Double eyebrow

This may present as a partial or complete duplication of the eyebrows.


Oscillopsia

A visual disturbance in which objects in the visual field appear to oscillate (jump, jiggle, vibrate).


Non-accomodative esotropia

A form of esotropia in which the angle of deviation is not affected by accommodative effort.


Vascular remnant arising from the disc

Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth.


Congenital stationary night blindness with normal fundus


Cyclodeviation

Cyclodeviation is defined as the rotation of an eyeball along the anteroposterior axis and cyclotropia as a misalignment of cyclodeviation between the two eyes.


Shallow orbits

Reduced depth of the orbits associated with prominent-appearing ocular globes.


Congenital hypertrophy of retinal pigment epithelium

Sharply demarcated, congenital hyperpigmentation of the retinal pigment epithelium.


Abnormal amplitude of pattern reversal visual evoked potentials


Curly eyelashes

Abnormally curly or curved eyelashes.


Myopic astigmatism

A condition where one or both of the two principal meridians focus in the front of the retina when the eye is at rest.


ophthalmoplegia

Weakness or paralysis of at least one of the muscles controlling the movement of the eye. It results from degeneration of the muscles or the neural pathways involved in the eye movement. Representative disorders causing ophthalmoplegia include ocular myopathies and multiple sclerosis.


Tapetal-like fundal reflex

Golden, scintillating, particulate reflection noted on fundus examination (typically in the macula and sparing the fovea). The term tapetal is used to describe this 'metallic' sheen appearance as it is thought to be similar to the 'tapetal' reflex seen in the eyes of certain animals.


Decreased tear drainage

A form of watery eye associated with obstruction of the nasolacrimal system. This may arise at the level of the punctum, the canaliculi, the sac or the nasolacrimal duct.


Horizontal supranuclear gaze palsy

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


Superior oblique muscle overaction

An ocular motility abnormality characterized by an overacting superior oblique muscle resulting to vertical incomitance of the eyes in lateral gaze. On examination, this is commonly seen as a downshoot of the adducting eye occuring when gaze is directed into the field of action of the inferior oblique muscle, producing a greater downward excursion of the adducted eye than of the abducted eye.


alternating exotropia

A form of ocular misalignment where the visual axes diverge inappropriately. For example, medial rectus muscle weakness may produce this condition as the affected eye will deviate laterally upon attempted forward gaze. An exotropia occurs due to the relatively unopposed force exerted on the eye by the lateral rectus muscle, which pulls the eye in an outward direction.


Retinopathy of prematurity prethreshold

High risk patients who were in Zone 1 (no Plus or stage 3) or Zone 2 with Plus or stage 3 but not both.


Intraretinal hyporeflective spaces on macular OCT


Peripheral cystoid retinal degeneration

Degenerative changes of the peripheral retina consisting of close-packed tiny cystic spaces at the outer plexiform/inner nuclear retinal level. The degeneration is very common in adult eyes and starts adjacent to the ora serrata and extends circumferentially and posteriorly.


Internal ophthalmoplegia

Paralysis of the iris and ciliary apparatus.


Grouped congenital hypertrophy of retinal pigment epithelium


occult macular dystrophy

Occult macular dystrophy is a rare, genetic retinal dystrophy disease characterized by bilateral progressive decline of visual acuity, due to retinal dysfunction confined only to the macula, associated with normal fundus and fluorescein angiograms and severly attenuated focal macular and multifocal electroretinograms.


congenital primary aphakia

Congenital primary aphakia (CPA) is characterized by an absence of the lens. The prevalence is unknown. CPA can be associated with variable secondary ocular defects (including aplasia/dysplasia of the anterior segment of the eye, microphthalmia, and in some cases absence of the iris, retinal dysplasia, or sclerocornea). CPA results from early developmental arrest, around the 4th-5th week of embryogenesis, which prevents the formation of any lens structure. Mutations in the FOXE3 gene were identified in three affected siblings born to consanguineous parents.


Impaired ocular abduction

An impaired ability of the eye to move in the outward direction (towards the side of the head).


Increased basal tear production

A form of watery eye associated with overproduction of tears due to an increased parasympathetic drive to the secretory component of the lacrimal system (lacrimal gland); this could be due to pro-secretory drug use (e.g. pilocarpine) or autonomic disturbance.


Corneal asymmetry

The presence of a size difference between the left and right cornea.


Conjunctival hamartoma

A hamartoma (disordered proliferation of mature tissues) of the conjunctiva.


rubeosis iridis

New growth of vessels on the surface of the iris.


Perifoveal ring of hyperautofluorescence surrounded by abnormal autofluorescence


Conjunctival cicatrization

An abnormality of the conjuctiva and ocular surface caused by conjunctival inflammation and associated with scarring.


Choroidal vascular hyperpermeability

Increased tendency of choiroidal blood vessels to allow fluids to leak characterized by multifocal choroidal hyperfluorescence on indocyanine green angiography (ICGA).


senile cataract

A cataract with no obvious cause occurring in persons over 50 years old.


Punctate keratitis

A type of keratitis characterized by inflammation in pinpoint areas of the corneal epithelium.


Cyclophoria

A form of latent strabismus (heterophoria) in which the occluded eye wheel-rotates on dissociation.


primary anetoderma

Primary anetoderma is a rare skin disease characterized by loss of elastin tissue resulting in localized areas of flaccid skin in the absence of a secondary cause.


True distance exotropia

Exotropia (intermittent or constant) on distance fixation with binocular single vision on near fixation under all testing conditions. The accommodative convergence/accommodation (AC:A) ratio is within normal limits.


Upgaze palsy

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


Abnormal amplitude of light-adapted flicker electroretinogram


Limited horizontal extraocular movement

Limited mobility of the eye to move from side to side (horizontally) within its socket.


Corneal scarring

Trauma to the cornea of the eye.


Abnormal fundus autofluorescence imaging

Fundus autofluorescence (FAF) is a non-invasive retinal imaging modality used in clinical practice to provide a density map of lipofuscin, the predominant ocular fluorophore, in the retinal pigment epithelium. Autofluorescent patterns result from the complex interaction of fluorophores such a lipofuscin, which release an autofluorescent signal, and elements such as melanin and rhodopsin, which absorb the excitation beam and attenuate autofluorescence. Other structures such as retinal vessels and the crystalline lens may also influence autofluorescence through blocking and interference.


Blue sclerae

An abnormal bluish coloration of the sclera.


Phthisis bulbi

Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease.


Conjunctival amyloidosis

A form of amyloidosis that affects the conjunctiva.


Abnormal medial rectus muscle physiology

A functional anomaly of the medial rectus muscle, an extraocular muscle that is innervated by the inferior division of the oculomotor nerve and whose sole action is the adduction of the eyeball.


hypotropia

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


Lenticular astigmatism

A type of astigmatism related to an irregular shape of the lens.


Reduced contrast sensitivity

An abnormality in perception of contrast. Spatial contrast is a physical dimension referring to the light-dark transition of a border or an edge in an image that delineates the existence of a pattern or an object. Contrast sensitivity refers to a measure of how much contrast a person requires to see a target. Contrast-sensitivity measurements differ from acuity measurements; acuity is a measure of the spatial-resolving ability of the visual system under conditions of very high contrast, whereas contrast sensitivity is a measure of the threshold contrast for seeing a target.


isolated ectopia lentis

Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity.


Horner syndrome

Horner's syndrome is a rare condition characterized by miosis (constriction of thepupil), ptosis (drooping of the upper eyelid), and anhidrosis (absence of sweating of the face). It iscaused by damage to the sympathetic nerves of the face. The underlying causes of Horner's syndrome vary greatly and may include a tumor, stroke, or other damage to a part of the brain called the brain stem ; injury to the carotid artery ;and trauma to the brachial plexus. In rare cases, Horner's syndrome is congenital (present from birth) and associated with a lack of pigmentation of the iris (colored part of the eye). Treatment of Horner's syndrome depends on the underlying cause.


Divergence nystagmus

A condition in which both eyes beat outward simultaneously.


Gaze-evoked nystagmus

Nystagmus made apparent by looking to the right or to the left.


jaw-winking syndrome

Marcus-Gunn syndrome is characterized by ptosis associated with maxillopalpebral synkinesis.


Recurrent corneal erosions

The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations.


Lens luxation

Complete dislocation of the lens of the eye.


Foveal photoreceptor outer segment loss on macular OCT


Visual fixation instability

A deficit in the ability to fixate eye movements in order to stabilize images on the retina


Vitreous inflammatory cells

The presence of inflammatory cells such as lymphocytes and macrophages in the vitreous.


Abnormality of globe location

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


Abnormal Humphrey SITA 30-2 perimetry test


Flame-shaped retinal hemorrhage

A type of retinal hemorrhage that is located within the nerve fiber layer (NFL) of the retina and that exhibits a characteristic flame shape which results from constraints by the structure of the NFL (axons of the ganglion cells).


Reticular retinal dystrophy

A type of of patterned retinal dystrophy that shows a reticular pattern of pigmentation.


Saccadic intrusion

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


central retinal artery occlusion

Blockage of the central retinal artery.


Paravenous chorioretinal atrophy

Chorioretinal atrophy along the retinal veins.


Macular crystals

Crystalline deposits in the macula.


Sudden loss of visual acuity

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


Dense posterior cortical cataract

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


Ultra-low vision with no light perception

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


Blue irides

A markedly blue coloration of the iris.


cystoid macular retinal degeneration

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


Inferior rectus muscle overaction

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


Anophthalmia

Absence of the globe or eyeball.


Vitreomacular traction

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


Increased vertical cup-to-disc ratio - 0.9

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


euryblepharon

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


Conjunctival lipoma

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


Abnormality of pattern onset/offset visual evoked potentials


Photoreceptor outer segment loss on macular OCT


Abnormal timing of pattern onset/offset visual evoked potentials


Intraretinal hemorrhage

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


Retinal coloboma

A notch or cleft of the retina.


Retinopathy of prematurity stage 5b

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


Exophoria

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


Abnormal line of Schwalbe morphology

An abnormality of the line of Schwalbe.


Macular hemorrhage

Bleeding occurring within the macula lutea of the retina.


Compensatory head tilt to the right shoulder

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


Abnormal Esterman grid perimetry test

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


Oculomotor synkinesis

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


Abnormal dark-adapted bright flash electroretinogram


Abnormal eye physiology

A functional anomaly of the eye.


Abnormality of vision

Abnormality of eyesight (visual perception).


Leukocoria

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


Supranuclear gaze palsy

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


cataract 5 multiple types

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


Abnormal amplitude of dark-adapted dim flash electroretinogram


malignant choroid melanoma

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


Abnormal inferior rectus muscle physiology

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


Falciform retinal fold

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


Medial rectus muscle weakness

Decreased strength of the medial rectus muscle.


Peripheral retinal neovascularization

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


Heterotropia

Manifest deviation of the visual axes not controlled by fusion.


Very severe constriction of peripheral visual field

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


Asymmetry of intraocular pressure

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


Abnormality of refraction

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


Posterior subcapsular cataract

A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule.


Anterior chamber cells grade 0

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


Anterior pyramidal cataract

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


Microtropia with identity

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


Convergence-retraction nystagmus

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


Mizuo phenomenon

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


Epicanthus superciliaris

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


Posterior Y-sutural cataract

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


Chaotic rapid conjugate ocular movements


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


Pseudoexfoliation

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


Slow pupillary light response

Reduced velocity and acceleration in the pupillary light response.


Cortical pulverulent cataract

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


Patchy atrophy of the retinal pigment epithelium

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


heterochromia iridis

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


Inferior retinal coloboma

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


Epicanthus tarsalis

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


Abnormal trabecular meshwork morphology

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


Alacrima

Absence of tear secretion.


corneal neovascularization

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


Hemeralopia

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.


Abnormal superior oblique muscle physiology

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


irregular astigmatism

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


Convergence excess esotropia

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


Distance esotropia

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


Pendular nystagmus

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


Dichromacy

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


Wagner disease

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


lens subluxation

A partial dislocation of the lens of the eye.


Cyclopia

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


Peripapillary atrophy

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


early-onset anterior polar cataract

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


Phenylephrine does not induce blanching of eye redness

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


Abnormal pupillary light reflex

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


Retinal flecks

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


Abnormal foveal morphology on macular OCT


Abnormal automated kinetic perimetry test


Dysmetric saccades

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


Superficial episcleral hyperemia

Prominence of blood vessels of the superficial episcleral tissues.


sclerocornea

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


Abnormally large globe

Diffusely large eye (with megalocornea) without glaucoma.


Retinopathy of prematurity zone II

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


Abnormal intraocular pressure

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


Abnormality of central retinal artery

An abnormality of a central retinal artery.


paralytic lagophthalmos

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


Hypometric saccades

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


Double elevator palsy

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


Dilatation of large choroidal vessels

Enlargement of the large blood vessels in the choroid.


Excyclophoria

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


White eyebrow

White color (lack of pigmentation) of the eyebrow.


Abnormal optic disc morphology

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


Full-thickness macular hole

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


abnormal pupillary function

A functional abnormality of the pupil.


Central scotoma

An area of depressed vision located at the point of fixation and that interferes with central vision.


cicatricial lagophthalmos

A type of lagophthalmos that occurs following trauma or surgery.


Circumlimbal hyperemia

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


Prominent corneal nerve fibers

Abnormal prominence of the corneal nerve fibers.


Retinopathy of prematurity stage 5a

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


Hypoplastic optic chiasm

Developmental defect characterized by undergrowth of the optic chiasm.


Electronegative electroretinogram

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


Bilateral congenital mydriasis

Congenital abnormal dilation of the pupil on both sides.


Abnormality of the curvature of the cornea


Abnormality of pattern visual evoked potentials


Coats disease

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


Abnormal central response of multifocal electroretinogram


Restrictive external ophthalmoplegia

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


Retinopathy of prematurity stage 1

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


Saccular conjunctival dilatations

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


Vertical nystagmus

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


Impaired smooth pursuit

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


Foveoschisis

Splitting of the retinal layers in the macula.


Abnormality of ciliary ganglion

An abnormality of a ciliary ganglion.


coloboma of macula

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


inherited vitreoretinopathy

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


Superior oblique muscle restriction

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


Mixed astigmatism

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


Epicanthus palpebralis

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


Age-related posterior subcapsular cataract

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


Macular dystrophy

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


Opto-chiasmatic atrophy

Wasting (atrophy) of the optic chiasm.


Vertical incomitant strabismus

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


Multifocal subretinal deposits

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


Alternating hypertropia

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


Intraretinal fluid

Edema/fluid accumulating within the retinal layers.


Subretinal hyporeflective spaces on macular OCT


Intraretinal exudate

Retinal exudate within the retinal tissue itself.


entropion

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


Vitreous snowballs

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


mechanical entropion

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


Nocturnal lagophthalmos

The inability to close the eyelids during sleep.


Corneal astigmatism

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


Uveal ectropion

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


Hypometric upward saccades

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


Descemet Membrane Folds

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


Retinopathy of prematurity threshold

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


Inferior oblique muscle weakness

Decreased strength of the inferior oblique muscle.


Laterally extended eyebrow

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


Sparse eyebrow

Decreased density/number of eyebrow hairs.


Undetectable light- and dark-adapted electroretinogram

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


Restrictive partial external ophthalmoplegia

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


Inferior rectus muscle weakness

Decreased strength of the inferior rectus muscle.


Abnormal ciliary body morphology

A structural anomaly of the ciliary body.


central retinal vein occlusion

Blockage of the central retinal vein.


Macular dots

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


Solitary congenital hypertrophy of retinal pigment epithelium

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


Aplasia/Hypoplasia of the iris

Absence or underdevelopment of the iris.


Maxillozygomatic hypoplasia

Hypoplasia of the maxillozygomatic complex.


cerulean cataract

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


benign neoplasm of eye

A benign neoplasm that involves the eye.


Optic nerve gray crescent

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


Abnormality morphology of the macular vasculature

Any structural anomaly of the blood vessels of the macula.


Retinopathy

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


Nodular changes affecting the eyelids

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


Asymmetrical distribution of pattern reversal visual evoked potentials


lattice corneal dystrophy

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


Abnormality of binocular vision

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


Increased vertical cup-to-disc ratio - 0.7

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


Mild constriction of peripheral visual field

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


Retinal atrophy

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


Anterior synechiae of the anterior chamber

Adhesions between the iris and the cornea.


Secondary esotropia

Convergent squint which follows loss or impairment of vision.


Parafoveal fixation

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


Abnormal timing of flash visual evoked potentials


Schnyder corneal dystrophy

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


Broad lateral eyebrow

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


Congenital stationary cone dysfunction

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


Microcornea

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


Dissociated horizontal deviation

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


Morning glory anomaly

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


Abnormal P50/N95 ratio of pattern electroretinogram


Near esotropia

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


Abnormal static automated perimetry test


Foveal photoreceptor layer loss on macular OCT


Hypodeviation

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


Hyperdeviation

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


Exodeviation

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


Reduced number of corneal endothelial cells

A reduction in the number of corneal endothelial cells.


Increased vertical cup-to-disc ratio - 1.0

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


Broad eyebrow

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


Beaten bronze macular sheen

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


posterior polymorphous corneal dystrophy 1

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


Optic nerve tram-track sign

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


Central fundal arteriolar microaneurysms

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


Orbital schwannoma

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


exotropia

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


Abnormal chorioretinal morphology

An abnormality of the choroid and retina.


Persistent pupillary membrane

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


Rotary nystagmus

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


Decreased blink rate

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


Abnormal confrontational visual field test


Dermolipoma of the conjunctiva

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


Herpetiform corneal ulceration

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


Retinal pigment epithelial atrophy

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


Asymmetrical distribution of flash visual evoked potentials


Prominent eyelashes

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


Reflex tearing

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


panuveitis

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


Abnormal inferior oblique muscle physiology

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


Abnormality of visual evoked potentials

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


Axenfeld-Rieger syndrome

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


Abnormal stereopsis

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


malignant ciliary body melanoma

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


Abnormal visual fixation

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


Lateral rectus muscle underaction

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


coloboma of optic nerve

A cleft of the optic nerve that extends inferiorly.


persistent hyperplastic primary vitreous

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


Corneal foreign body sensation

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


cyclotropia

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


Vestibular nystagmus

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


Microspherophakia

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


Choriocapillaris atrophy

Atrophy of the capillary lamina of choroid.


Pseudopapilledema

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


Abnormal amplitude of dark-adapted bright flash electroretinogram


Latent myopia

The difference between total and manifest myopia.


Impaired ocular adduction

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


Sparse eyelashes

Decreased density/number of eyelashes.


Complete congenital stationary night blindness


Abnormal Descemet membrane morphology

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


achromatopsia

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


Peripheral fixation

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


Subhyaloid hemorrhage

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


Abnormal location of the eyebrow

Anomalous anatomical placement of the eyebrow.


coloboma of superior eyelid

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


Hyperphoria

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


Hyaloid vascular remnant and retrolental mass

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


Abnormal dark-adapted dim flash electroretinogram


Macular exudate

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


Absolute eccentric fixation

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


Abnormal conjunctiva morphology

An abnormality of the conjunctiva.


Cilioretinal artery occlusion

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


Hypermetric downward saccades

Overshoot of downward saccadic eye movements.


Chorioretinal lacunae

Punched out lesions in the pigmented layer of the retina.


Macular hyperpigmentation

Increased amount of pigmentation in the macula lutea.


Setting-sun eye phenomenon

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


Microtropia without identity

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


Anterior chamber cells grade 0.5+

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


Abnormal pupil shape

A deviation from the normal circular shape of the pupil


Punctate cataract

A type of cataract with punctate opacities of the lens.


Mildly reduced contrast sensitivity

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


ocular motor apraxia, Cogan type

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


blue cone monochromacy

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


Lower eyelid edema

Edema in the region of the Lower eyelid.


Sparse medial eyebrow

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


Abnormal light-adapted single flash electroretinogram


Pigment deposition in the trabecular meshwork

Accumulation of abnormal amounts of pigment within the trabecular meshwork.


Constriction of peripheral visual field

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


Distichiasis

Double rows of eyelashes.


red color blindness

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


Absent smooth pursuit

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


cortical cataract

A cataract (disease) that involves the lens cortex.


Abnormal amplitude of pattern onset/offset visual evoked potentials


Retinal pigment epithelial loss on macular OCT


Oblique astigmatism

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


Hamartoma of the orbital region

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


Unilateral microphthalmos

A developmental anomaly characterized by abnormal smallness of one eye.


Coralliform cataract

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


angioid streaks

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


Retinopathy of prematurity stage 5

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


Retinal thinning

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


Posterior embryotoxon

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


Peripheral tractional retinal detachment

Tractional retinal detachment at the periphery of the retina.


Abnormal morphology of the choroidal vasculature


Supranuclear ophthalmoplegia

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


Disciform macular scar

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


Macrosaccadic oscillations

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


Abnormal optic nerve morphology

Abnormality of the optic nerve.


Undetectable pattern electroretinogram

Absent response to a pattern electroretinogram (PERG).


Retinal cotton wool spot

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


Abnormal optic chiasm morphology

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


Visual acuity light perception with projection


Recurrent external ophthalmoplegia

Alternating and recurrent weakness of the external ocular muscles.


Abnormal visual field test

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


Retinal arteriolar constriction

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


telecanthus

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


Juvenile posterior subcapsular lenticular opacities


cataract 4 multiple types

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


congenital microcoria

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


Microcoria

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


Abnormal lateral rectus muscle physiology

A functional anomaly of the lateral rectus muscle.


Subfoveal choroidal neovascularization

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


stenosis of lacrimal punctum

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


Polar cataract

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


Abnormality of the extraocular muscles

An abnormality of an extraocular muscle.


Decreased Arden ratio of electrooculogram

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


Mildly reduced visual acuity

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


Abnormal cornea morphology

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


Coronary cataract

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


Lester's sign

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


Optic nerve misrouting

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


Abnormality of ocular smooth pursuit

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


Abnormal morphology of the conjunctival vasculature

Any abnormality of the blood vessels of the conjunctiva.


Spherophakia

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


Latent hypermetropia

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


Abnormality of corneal size

Any abnormality of the size or morphology of the cornea.


Peripapillary chorioretinal atrophy

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


Eyelid retraction

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


Compensatory face turn to the right

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


Slowed horizontal saccades

An abnormally slow velocity of horizontal saccadic eye movements.


Chronic irritative conjunctivitis

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


Progressive ptosis

A progressive form of ptosis.


Achromatic retinal patches

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


Abnormal vertical rectus muscle physiology

A functional anomaly of the superior or inferior rectus muscle.


Retinopathy of prematurity stage 4b

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


Leakage of dye on fundus fluorescein angiography

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


Transient unilateral blurring of vision

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


Increased corneal curvature

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


Decreased corneal thickness

A decreased anteroposterior thickness of the cornea.


Progressive cataract

A kind of cataract that progresses with age.


Moderate constriction of peripheral visual field

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


dacryocystocele

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


Retinal vascular tortuosity

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


primary congenital glaucoma

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


Abnormal eyebrow morphology

An abnormality of the eyebrow.


Impaired convergence

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


Undetectable electroretinogram

Lack of any response to stimulation upon electroretinography.


Abnormal saccadic eye movements

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


Reduced visual accommodation

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


Sparse lateral eyebrow

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


Cherry red spot of the macula

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


Conjunctival nodule

Presence of nodules in the conjunctiva of the eye.


Pigmentary retinopathy

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


Superior rectus muscle underaction

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


Chorioretinal atrophy

Atrophy of the choroid and retinal layers of the fundus.


Severely reduced contrast sensitivity

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


hordeolum externum

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


Paroxysmal involuntary eye movements

Sudden-onset episode of abnormal, involuntary eye movements.


Membranous vitreous appearance

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


Beaded vitreous appearance

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


Anterior chamber flare grade 2+

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


coloboma of iris

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


Nystagmus-induced head nodding

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


Hyperautofluorescent macular lesion

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


Sutural cataract

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


Scleral staphyloma

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


Abnormal fundus fluorescein angiography

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


Congenital horizontal nystagmus

Horizontal nystagmus dating from or present at birth.


corneal granular dystrophy

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


Upbeat nystagmus

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


Decreased corneal sensation

Reduced ability of the cornea to respond to stimulation.


Globe retraction and deviation on abduction


Slow saccadic eye movements

An abnormally slow velocity of the saccadic eye movements.


Absent eyelashes

Lack of eyelashes.


Posterior retinal neovascularization

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


Abnormality of ocular abduction

An abnormality involving the movement of the eye outwards.


Ocular flutter

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


hyperopia, high

A severe form of hypermetropia with over +5.00 diopters.


Subretinal exudate

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


Marcus Gunn pupil

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


Deep anterior chamber

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


Subretinal deposits

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


Fully accomodative esotropia

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


Incomplete congenital stationary night blindness


coloboma of inferior eyelid

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


Moderately reduced contrast sensitivity

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


blue color blindness

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


Saccadic smooth pursuit

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


Ring scotoma

An annular field defect centered on fixation.


Presenile cataracts

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


Retinopathy of prematurity stage 3

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


True anophthalmia

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


Sectoral retinitis pigmentosa

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


Abnormal retinal nerve fiber layer morphology

A structural abnormality of the retinal nerve fiber layer


Double depressor palsy

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


Amyloid deposition in the vitreous humor

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


Anterior chamber cells grade 1+

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


Unilateral ptosis

A unilateral form of ptosis.


Retinopathy of prematurity pre-plus

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


Increased tear production

Increased lacrimation owing to overproduction of tears.


Asymmetry of iris pigmentation

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


Abnormal Humphrey SITA 10-2 perimetry test


congenital Horner syndrome

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


iris melanoma

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


Anterior chamber flare grade 3+

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


Hypoplasia of the iris dilator muscle

Underdevelopment of the dilatator pupillae.


Thinning of Descemet membrane

A reduction in the thickness of Descemet's membrane.


Abnormal electrooculogram

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


Broad medial eyebrow

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


senile entropion

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


Epicanthus inversus

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


Lenticonus

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


Hemolacria

The presence of blood in tears.


Iris nodule

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


Consecutive esotropia

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


vitelliform macular dystrophy

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


Downgaze palsy

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


Epicanthus

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


lacrimal duct obstruction

Blockage of the tear duct.


Weakness of orbicularis oculi muscle

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


Absent foveal reflex

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


Abnormal superior rectus muscle physiology

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


Compensatory head posture

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


combined hamartoma of the retina and retinal pigment epithelium

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


Meesmann corneal dystrophy

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


Fundus hemorrhage

Bleeding within the fundus of the eye.


Decreased light- and dark-adapted electroretinogram amplitude

Descreased amplitude of eletrical response upon electroretinography.


Staring gaze

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


Superior oblique muscle underaction

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


Visual loss

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


Extension of eyebrows towards upper eyelid

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


epiblepharon

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


benign concentric annular macular dystrophy

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


Lateral rectus muscle overaction

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


Purulent eye discharge

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


blepharophimosis

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


Abnormality of macular pigmentation

Abnormality of macular or foveal pigmentation.


Macular microaneurysm/hemorrhage

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


Moderate myopia

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


Monocular strabismus

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


Abnormal corneal stroma morphology

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


Inferior oblique muscle underaction

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


cicatricial ectropion

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


Abnormal retinal vascular morphology

A structural abnormality of retinal vasculature.


Progressive visual loss

A reduction of previously attained ability to see.


Corneal guttata

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