- ABLEPHARON
Ablepharon is the absence of an eyelid
SYNONYM:
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- ANEURYSM, CONGENITAL RETINAL
Congenital retinal aneurysm is an arterial dilatation in the retina
SYNONYM:
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- ANIRIDIA
Aniridia is the partial or complete absence of the iris. It is usually bilateral
SYNONYM: Irideremia
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- ANISOCORIA, CONGENITAL
Congenital anisocoria is a congenital inequality in the size of both pupils and without associated structural abnormality of the iris or malfunction of the eye
SYNONYM:
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- ANKYLOBLEPHARON FILIFORME ADNATUM
Ankyloblepharon filiforme adnatum is a condition in which there are filamentous adhesions between the upper and lower eyelids
SYNONYM:
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- ANKYLOBLEPHARON, TOTAL
Total ankyloblepharon is adhesion of the eyelids to each other
SYNONYM:
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- ANOPHTHALMOS
Anophthalmos is the congenital absence of one or both eyes
SYNONYM:
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- APHAKIA, CONGENITAL
Congenital aphakia is the absence of the lens
SYNONYM:
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- BLEPHAROCHALASIS
Blepharochalasis is an extra skin fold almost at the margin of the upper lid
SYNONYM:
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- BLEPHAROCLISIS
Blepharoclisis is adhesion of the lid margins
SYNONYM:
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- BLEPHAROCOLOBOMA
Blepharocoloboma is a defect, or a fissure, of an eyelid
SYNONYM:
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- BLEPHAROPHIMOSIS
Blepharophimosis is an inability to fully open the eye
SYNONYM: Blepharostenosis
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- BLEPHAROPTOSIS, CONGENITAL
Congenital blepharoptosis is a drooping upper eyelid
SYNONYM: Blepharoptosia
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- CATARACTA MEMBRANACEA CONGENITA
Cataracta membranacea congenita is an opacification of the lens or its capsule resembling a membrane
SYNONYM:
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- CATARACT, CONGENITAL
Congenital cataract is a hereditary condition characterized by loss of transparency of the lens of the eye or its capsule
SYNONYM: Embryonal Cataract
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- CATARACT, FROSTED
rosted cataract is characterized by white scintillating opacities resembling frost or ice crystals and appearing in the embryonic nucleus
SYNONYM: Vogt’s Cataract
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- CHOROID, COLOBOMA OF
Coloboma of the choroid is a defect of the choroid and retina. The exposed sclera appears as a white patch and is usually situated below the optic disc
SYNONYM:
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- CHOROID, CONGENITAL CRESCENT OF
Congenital crescent of the choroid is a pigmented half-moon-shaped area, usually along the inferior margin of the disc
SYNONYM: Fuch’s Coloboma
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- CHOROIDEREMIA
Choroideremia is progressive degeneration and atrophy of the pigment epithelium and choroid
SYNONYM: Tapetochoroidal Dystrophy
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- CILIA, ABSENCE OF, OR AGENESIS OF
SYNONYM:
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- CILIARY BODY, COLOBOMA OF
Coloboma of the ciliary body is a defect involving the corpus ciliare, the tunica vasculosa between the choroid and the iris
SYNONYM:
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- COLOBOMA
Coloboma is a mutilation, defect, or fissure of any part of the eye
SYNONYM:
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- CONJUNCTIVAL MELANOSIS, CONGENITAL
Congenital conjunctival melanosis is a condition characterized by pigment deposits in the conjunctiva
SYNONYM: Eye Melanosis
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- CONUS
Conus is a variation from the normal circular outline of the optic discs
SYNONYM:
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- CORECTOPIA
Corectopia is an abnormal position of the pupil
SYNONYM: Ectopia of the Pupil
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- CORNEA, ABSENCE OF
SYNONYM:
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- CORNEA, CONGENITAL MACULAR OPACITIES OF
Congenital macular opacities of the cornea are a progressive cornea1 degeneration characterized by corneal opacities
SYNONYM:
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- CORNEA, CRYSTALLINE DYSTROPHY OF
Crystalline dystrophy of the cornea is the presence of opacities in the anterior stromal layer of the cornea
SYNONYM: Schnyder’s Corneal Dystrophy
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- CORNEAL EROSIONS, HEREDITARY
Hereditary corneal erosions are the presence of hereditary corneal epithelial dystrophy with corneal erosions
SYNONYM: Franceschetti’s Dystrophy
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- CORNEAL MELANOSIS, CONGENITAL
Congenital corneal melanosis is the presence of pigment cells, which are usually large and branching, in the substantia propria or in the epithelium near the limbus
SYNONYM:
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- CORNEAL OPACITY, CONGENITAL
Congenital corneal opacity is a nontransparent cornea
SYNONYM:
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- CORNEA, OVAL
Oval cornea is a vertically oval or egg-shaped cornea caused by prenatal infection or a growth defect
SYNONYM:
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- CORNEA PLANA CONGENITA FAMILIARES
Cornea plana congenita familiares is a flattened cornea
SYNONYM:
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- CORNEA, POLYMORPHOUS ENDOTHELIAL DEGENERATION OF
Polymorphous endothelial degeneration of the cornea is a degeneration of the corneal endothelium with vesicles, opacities, and nodules
SYNONYM:
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- CORNEA, SPECKLED DYSTROPHY OF
Speckled dystrophy of the cornea is the presence of scattered opacities in the corneal stroma
SYNONYM: Francois’ Speckled Dystrophy of Cornea
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- CRYPTOPHTHALMOS
Cryptophthalmos is characterized by failure of eyelid formation so that the skin is continuous from forehead to cheeks. Eyelashes and eyebrows are absent
SYNONYM:
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- DACRYOCYSTIC DUCT, CONGENITAL OBSTRUCTION OF
Congenital obstruction of dacryocystic duct is a blockage of the lacrimal duct resulting from failure to discharge the epithelial plug
SYNONYM:
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- DACRYOSTENOSIS, CONGENITAL
Congenital dacryostenosis is a narrowing or stricture of a lacrimal duct
SYNONYM:
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- DEGENERATION, TAPETORETINAL
Tapetoretinal degeneration is degeneration of the pigment layer of the retina
SYNONYM:
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- DERMOID CYST, ORBITAL
Orbital dermoid cyst is a dermoid cyst occurring in the eye socket
SYNONYM:
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- DERMOID CYST, PERIORBITAL
Periorbital dermoid cyst is a dermoid cyst occurring in the periosteum of the orbit of the eye
SYNONYM:
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- DYSCORIA
Dyscoria is an anomalously shaped pupil
SYNONYM:
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- DYSTOPIA CANTHORUM
Dystopia canthorum is displacement or malposition of the canthus and lacrimal puncta with other associated conditions
SYNONYM:
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- EMBRYOTOXON
Embryotoxon is a band of corneal opacity in the newborn
SYNONYM:
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- EMBRYOTOXON, POSTERIOR
Posterior embryotoxon is a band of opacity on the posterior surface of the cornea
SYNONYM: Posterior Marginal Dysplasia of Cornea, Axenfeld’s Syndrome
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- EPIBLEPHARON
Epiblepharon is an extra skin fold almost at the margin of the lower
SYNONYM:
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- EPICANTHUS
Epicanthus is a vertical fold of skin alongside the bridge of the nose, extending over and partially hiding the canthus
SYNONYM: Plica Palpebronasalis
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- EYE, ANASTOMOTIC VASCULAR ANOMALIES OF
Anastomotic vascular anomalies of the eye may be anastomoses of the cilioretinal arteries, opticociliary arteries, or the choroidovaginal veins
SYNONYM:
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- EYE, APLASIA OF, DYSPLASIA OF, OR HYPOPLASIA
SYNONYM:
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- EYE, CONGENITAL CYSTIC
Congenital cystic eye is the arrest of development before invagination of an optical vesicle, leaving a large thin-walled cyst
SYNONYM:
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- EYELID, COLOBOMA OF
Coloboma of the eyelid is a vertical fissure of the eyelid
SYNONYM: Palpebral Coloboma
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- EYELID, CONGENITAL ECTROPION OF
Congenital ectropion of the eyelid is the turning outward of the margin of the eyelid
SYNONYM:
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- EYE, MACULAR DEFECTS OF
Macular defects of the eye are various congenital abnormalities in the macular area
SYNONYM:
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- EYE MUSCLES, ACCESSORY
SYNONYM:
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- EYE REMNANTS, PERSISTENT FETAL VASCULAR
Persistent fetal vascular eye remnants are the presence of an embryonic type of eye vasculature in an infant
SYNONYM:
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- EYE, RUDIMENTARY
Rudimentary eye is an underdeveloped eye
SYNONYM:
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- EYE, SUPERNUMERARY CARUNCLE OF
Supernumerary caruncle of the eye is an extra carunculi lacrimalis of the eye
SYNONYM:
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- FOLD, RETINAL
Retinal fold is a plica or margin formed by the folding of part of the retina
SYNONYM: Ablatio Falciformis Congenita
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- GLAUCOMA, CONGENITAL
Congenital glaucoma is characterized by enlargement of the eyeball, thinning and bulging of the cornea, a large and fixed pupil, and a very deep anterior chamber. The disorder is usually bilateral and is seen in infants and children. In this rare condition, the outflow of aqueous is obstructed by a congenital defect in the region of the angle of the anterior chamber, or by a rudimentary or absent canal of Schlemm, with consequent increase of intraocular tension. If the disease progresses, the disc becomes excavated and blindness ensues
SYNONYM: Buphthalmos, Hydrophthalmos, Keratoglobus
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- HYALOID ARTERY, PERSISTENT
Persistent hyaloid artery is failure of atrophy of the hyaloid artery between the lens and the optic disc
SYNONYM: Persistent Cloquet’s Canal
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- HYALOID CYSTS, PREPAPILLARY
Prepapillary hyaloid cysts are cysts on the disc resulting from incomplete atrophy of the hyaloid vessels
SYNONYM:
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- IRIDECTROPIUM
Iridectropium is eversion of part of the iris
SYNONYM:
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- IRIDOCELE
Iridocele is protrusion of part of the iris through a defect in the cornea
SYNONYM:
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- IRIS, COLOBOMA OF
Coloboma of the iris is a congenital cleft of the iris, often associated with coloboma of the choroid
SYNONYM: Iridoschisis, Iridocoloboma, Coloboma Iridis
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- KERATOCONUS, CONGENITAL
Congenital keratoconus is a conical protrusion of the center of the cornea
SYNONYM:
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- LACRIMAL APPARATUS, ABSENCE OF, OR AGENESIS OF
SYNONYM:
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- LACRIMAL CANAL, ACCESSORY
SYNONYM:
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- LACRIMAL CANALICULA, SUPERNUMERARY
SYNONYM:
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- LACRIMAL CANALICULUS, INCOMPLETE OR ABSENT
SYNONYM:
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- LACRIMAL DUCT CLOSURE, CONGENITAL
Congenital lacrimal duct closure is the blockage of one or both tear ducts
SYNONYM:
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- LACRIMAL DUCT, IMPATENCY OF
Impatency of the lacrimal duct is failure of canalization of the nasolacrimal duct, usually at the inferior ostium
SYNONYM:
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- LACRIMAL GLAND, ABERRANT
Aberrant lacrimal gland is a misplaced lacrimal gland
SYNONYM:
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- LACRIMAL GLAND, ECTOPIA OF
Ectopia of the lacrimal gland is an abnormal position of a lacrimal gland
SYNONYM:
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- LACRIMAL PUNCTA, SUPERNUMERARY
Supernumerary lacrimal puncta are additional openings of the lacrimal canal
SYNONYM:
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- LACRIMAL PUNCTUM, ABSENCE OF
SYNONYM:
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- LACRIMAL PUNCTUM, INFERIOR, ATRESIA OF
Atresia of the inferior lacrirnal punctum is absence of a canal in the inferior lacrimal punctum
SYNONYM:
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- LACRIMONASAL DUCT, SUPERNUMERARY
Supernumerary lacrimonasal duet is an extra passage from the lacrimal sac to the nasal meatus
SYNONYM:
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- LENS, COLOBOMA OF
Coloboma of the lens is a defect in the lens of the eye in which the periphery is incomplete or indented
SYNONYM: Coloboma Lentis
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- LENS, PERSISTENT VASCULAR SHEATH
Persistent vascular sheath of the lens is the presence of a posterior portion of the vascular sheath of the lens, and the presence of the hyaloid system
SYNONYM: Persistent Primary Hyperplastic Vitreous
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- LENTICONUS, ANTERIOR
Anterior lenticonus is a cone-shaped protrusion of the lens, anteriorly
SYNONYM:
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- LENTICONUS, POSTERIOR
Posterior lenticonus is a cone-shaped protrusion of the lens, posteriorly
SYNONYM:
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- LENTIGLOBUS
Lentiglobus is a spheroid protrusion of the posterior lens surface
SYNONYM:
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- MACROCORNEA
Macrocornea is a large or protruding cornea, with glaucoma as the only abnormality. The size of the cornea is 13 to 18 mm in diameter
SYNONYM: Megalocornea
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- MACULA, HETEROTOPIA OF
Heterotopia of macula is the abnormal location of the macula
SYNONYM:
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- MEGALOCORNEA
Megalocornea is an unusually large cornea
SYNONYM:
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- MEGALOPAPILLA
Megalopapilla is an unusually large optic disc
SYNONYM:
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- MEGALOPHTHALMOS
Megalophthalmos is an eye of abnormally large size
SYNONYM:
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- MELANOCYTOSIS, OCULODERMAL
Oculodermal melanocytosis is pigmentation of the facial skin and the eye following first and second trigeminal nerve distribution
SYNONYM: Oculocutaneous Pigmentation, Nevus of Ota
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- MELANOSIS, CONGENITAL SCLERAL
Congenital scleral melanosis is the pigmentation of superficial layers of the sclerotic coat of the eye
SYNONYM: Schmidt-Rimpler Syndrome
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- MELANOSIS OCULI
Melanosis oculi is an increase of or excessive pigmentation in part of the eye
SYNONYM:
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- MELANOSIS, RETINAL
Retinal melanosis is migration into the retinal substance and hyperplasia of retinal epithelial cells with developmental failure of subjacent rods and cones
SYNONYM: Bear-track Pigmentation of Retina, Grouped Pigmentation of Retina
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- MEMBRANA CAPSULARIS LENTIS POSTERIOR
Membrana capsularis lentis posterior is a persistent nutritive capsule over the posterior surface of the crystalline lens
SYNONYM:
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- MEMBRANA EPIPAPILLARIS
Membrana epipapillaris is an abnormal fibrous membrane over the optic disc
SYNONYM:
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- MICROBLEPHARON
Microblepharon is an abnormally small eyelid
SYNONYM:
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- MICROCORNEA
Microcornea is an abnormally thin and flat cornea
SYNONYM:
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- MICROPHAKIA
Microphakia is a small spherical lens
SYNONYM: Spherophakia, Microlentia
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- MICROPHTHALMOS
Microphthalmos is an abnormally small eyeball
SYNONYM: Microphthalmia
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- NYSTAGMUS, CONGENITAL
Congenital nystagmus is the presence of regular or rhythmic oscillations of the eyeballs. This may be horizontal, vertical, or rotary
SYNONYM:
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- OCULAR MUSCLE, ABSENT
SYNONYM:
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- OPACITY, CONGENITAL VITREOUS
Congenital vitreous opacity is nontransparency of the vitreous body
SYNONYM:
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- OPTIC DISC, CONGENITAL PIGMENTATION OF
Congenital pigmentation of the optic disc is the presence of pigment epithelium in or near the optic disc
SYNONYM:
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- OPTIC DISC, GLIOSIS OF
Gliosis of the optic disc is an area of persistent neuroglia covering part or all of the optic disc
SYNONYM:
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- OPTIC DISC, PITS OF
Pits of the optic disc are variable sized excavations of the optic nerve head
SYNONYM:
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- OPTIC NERVE, APLASIA OF
SYNONYM:
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- OPTIC NERVE ENTRY, COLOBOMA OF
Coloboma of the optic nerve entry is a defect in the optic disc, and is usually associated with other eye defects
SYNONYM:
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- OPTIC NERVE FIBERS, ABERRANT
Aberrant optic nerve fibers are small patches of misplaced nerve fibers that can occur nearly anywhere in the wall of the optic vesicle and stalk
SYNONYM:
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- OPTIC NERVE FIBERS, OPAQUE
Opaque optic nerve fibers are characterized by the presence of medullations of optic nerve fibers extending onto the disc and adjacent retina so that they can be seen ophthalmoscopically
SYNONYM: Medullated Optic Nerve Fibers, Myelinated Optic Nerve Fibers, Papilla Leporina
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- OPTIC NERVE, PIGMENTATION OF
Pigmentation of the optic nerve is discoloration of the optic nerve
SYNONYM:
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- OPTIC PAPILLA, CONGENITAL PSEUDONEURITIS OF
Congenital pseudoneuritis of the optic papilla is a piling of optic nerve fibers on the disc resulting in obliteration of the physiologic cup and some of the disc margin. It must be differentiated from a true neuritis of the optic papilla
SYNONYM: Spurious Optic Neuritis
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- OPTIC PAPILLA, PIGMENTED
Pigmented optic papilla is an abnormal deposition of pigment in the discus nervi optici
SYNONYM:
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- POLYCORIA
Polycoria is the presence of two or more pupils in one eye
SYNONYM:
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- PUPIL, ATRESIA OF
Atresia of pupil is a pupil without an opening
SYNONYM:
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- PUPILLARY MEMBRANE, PERSISTENT
Persistent pupillary membrane is retention of the thin vascular membrane that forms the anterior portion of the lens capsule during fetal life. It occludes the fetal pupil until about the seventh month of fetal life, when it normally disappears
SYNONYM:
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- RETINA, COLOBOMA OF
Coloboma of retina is a defect in the retina
SYNONYM: Coloboma Retinae, Coloboma Maculae
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- RETINA, CONGENITAL PIGMENTATION OF
Congenital pigmentation of the retina is the presence of local patches of pigment in the inner layer of the optic cup
SYNONYM:
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- RETINAL DYSPIASIA SYNDROME
Retinal dysplasia syndrome consists of bilateral retinal dysplasia in the shape of rosettes with microphthalmia and cerebral agenesis
SYNONYM: Reese’s Syndrome
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- RETINITIS PUNCTATA ALBESCENS
Retinitis punctata albescens is defective vision in bright light with fine white spots in the retina
SYNONYM: Fundus Albipunctatus cum Hemeralopia, Lauber’s Disease
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- RETINOSCHISIS, CONGENITAL
Congenital retinoschisis is a splitting of the retinal layers, or a detachment of the retina
SYNONYM:
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- SCLERA, COLOBOMA OF
Coloboma of the sclera is a defect in the sclera or fibrous membrane that forms the outer envelope of the eye
SYNONYM:
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- SCLEROTICS, BLUE
Blue sclerotics is an abnormal translucency of the sclera, enabling the color of the uvea to be seen
SYNONYM:
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- VEILS, PREPAPILLARY
Prepapillary veils are rnesodermal remnants of the hyaloid system
SYNONYM: Glial Remnants
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- VEILS, VITREOUS
Vitreous veils are preretinal or papillary veils resulting from an occluded and persistent hyaloid artery surrounded by glial tissue
SYNONYM: Bergmeister’s Papilla
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