EYE DEFORMITIES

-ABLEPHARON:

Ablepharon is the absence of an eyelid

SYNONYM:__________

-ANEURYSM, CONGENITAL RETINAL:

Congenital retinal aneurysm is an arterial dilatation in the retina

SYNONYM:___________

-ANIRIDIA

Aniridia is the partial or complete absence of the iris. It is usually bilateral

SYNONYM: Irideremia

-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:

-ANKYLOBLEPHARON FILIFORME ADNATUM

Ankyloblepharon filiforme adnatum is a condition in which there are filamentous adhesions between the upper and lower eyelids

SYNONYM:

-ANKYLOBLEPHARON, TOTAL

Total ankyloblepharon is adhesion of the eyelids to each other

SYNONYM:

-ANOPHTHALMOS

Anophthalmos is the congenital absence of one or both eyes

SYNONYM:

-APHAKIA, CONGENITAL

Congenital aphakia is the absence of the lens

SYNONYM:

-BLEPHAROCHALASIS

Blepharochalasis is an extra skin fold almost at the margin of the upper lid

SYNONYM:

-BLEPHAROCLISIS

Blepharoclisis is adhesion of the lid margins

SYNONYM:

-BLEPHAROCOLOBOMA

Blepharocoloboma is a defect, or a fissure, of an eyelid

SYNONYM:

-BLEPHAROPHIMOSIS

Blepharophimosis is an inability to fully open the eye

SYNONYM: Blepharostenosis

-BLEPHAROPTOSIS, CONGENITAL

Congenital blepharoptosis is a drooping upper eyelid

SYNONYM: Blepharoptosia

-CATARACTA MEMBRANACEA CONGENITA

Cataracta membranacea congenita is an opacification of the lens or its capsule resembling a membrane

SYNONYM:

-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

-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

-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:

-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

-CHOROIDEREMIA

Choroideremia is progressive degeneration and atrophy of the pigment epithelium and choroid

SYNONYM: Tapetochoroidal Dystrophy

-CILIA, ABSENCE OF, OR AGENESIS OF

SYNONYM:

-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:

-COLOBOMA

Coloboma is a mutilation, defect, or fissure of any part of the eye

SYNONYM:

-CONJUNCTIVAL MELANOSIS, CONGENITAL

Congenital conjunctival melanosis is a condition characterized by pigment deposits in the conjunctiva

SYNONYM: Eye Melanosis

-CONUS

Conus is a variation from the normal circular outline of the optic discs

SYNONYM:

-CORECTOPIA

Corectopia is an abnormal position of the pupil

SYNONYM: Ectopia of the Pupil

CORNEA, ABSENCE OF

SYNONYM:

-CORNEA, CONGENITAL MACULAR OPACITIES OF

Congenital macular opacities of the cornea are a progressive cornea1 degeneration characterized by corneal opacities

SYNONYM:

-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

-CORNEAL EROSIONS, HEREDITARY

Hereditary corneal erosions are the presence of hereditary corneal epithelial dystrophy with corneal erosions

SYNONYM: Franceschetti’s Dystrophy

-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:

-CORNEAL OPACITY, CONGENITAL

Congenital corneal opacity is a nontransparent cornea

SYNONYM:

-CORNEA, OVAL

Oval cornea is a vertically oval or egg-shaped cornea caused by prenatal infection or a growth defect

SYNONYM:

-CORNEA PLANA CONGENITA FAMILIARES

Cornea plana congenita familiares is a flattened cornea

SYNONYM:

-CORNEA, POLYMORPHOUS ENDOTHELIAL DEGENERATION OF

Polymorphous endothelial degeneration of the cornea is a degeneration of the corneal endothelium with vesicles, opacities, and nodules

SYNONYM:

-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

-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:

-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:

-DACRYOSTENOSIS, CONGENITAL

Congenital dacryostenosis is a narrowing or stricture of a lacrimal duct

SYNONYM:

-DEGENERATION, TAPETORETINAL

Tapetoretinal degeneration is degeneration of the pigment layer of the retina

SYNONYM:

-DERMOID CYST, ORBITAL

Orbital dermoid cyst is a dermoid cyst occurring in the eye socket

SYNONYM:

-DERMOID CYST, PERIORBITAL

Periorbital dermoid cyst is a dermoid cyst occurring in the periosteum of the orbit of the eye

SYNONYM:

-DYSCORIA

Dyscoria is an anomalously shaped pupil

SYNONYM:

-DYSTOPIA CANTHORUM

Dystopia canthorum is displacement or malposition of the canthus and lacrimal puncta with other associated conditions

SYNONYM:

-EMBRYOTOXON

Embryotoxon is a band of corneal opacity in the newborn

SYNONYM:

-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

-EPIBLEPHARON

Epiblepharon is an extra skin fold almost at the margin of the lower

SYNONYM:

-EPICANTHUS

Epicanthus is a vertical fold of skin alongside the bridge of the nose, extending over and partially hiding the canthus

SYNONYM: Plica Palpebronasalis

-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:

-EYE, APLASIA OF, DYSPLASIA OF, OR HYPOPLASIA

SYNONYM:

-EYE, CONGENITAL CYSTIC

Congenital cystic eye is the arrest of development before invagination of an optical vesicle, leaving a large thin-walled cyst

SYNONYM:

-EYELID, COLOBOMA OF

Coloboma of the eyelid is a vertical fissure of the eyelid

SYNONYM: Palpebral Coloboma

-EYELID, CONGENITAL ECTROPION OF

Congenital ectropion of the eyelid is the turning outward of the margin of the eyelid

SYNONYM:

-EYE, MACULAR DEFECTS OF

Macular defects of the eye are various congenital abnormalities in the macular area

SYNONYM:

-EYE MUSCLES, ACCESSORY

SYNONYM:

-EYE REMNANTS, PERSISTENT FETAL VASCULAR

Persistent fetal vascular eye remnants are the presence of an embryonic type of eye vasculature in an infant

SYNONYM:

-EYE, RUDIMENTARY

Rudimentary eye is an underdeveloped eye

SYNONYM:

-EYE, SUPERNUMERARY CARUNCLE OF

Supernumerary caruncle of the eye is an extra carunculi lacrimalis of the eye

SYNONYM:

-FOLD, RETINAL

Retinal fold is a plica or margin formed by the folding of part of the retina

SYNONYM: Ablatio Falciformis Congenita

-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

-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

-HYALOID CYSTS, PREPAPILLARY

Prepapillary hyaloid cysts are cysts on the disc resulting from incomplete atrophy of the hyaloid vessels

SYNONYM:

-IRIDECTROPIUM

Iridectropium is eversion of part of the iris

SYNONYM:

-IRIDOCELE

Iridocele is protrusion of part of the iris through a defect in the cornea

SYNONYM:

-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

-KERATOCONUS, CONGENITAL

Congenital keratoconus is a conical protrusion of the center of the cornea

SYNONYM:

-LACRIMAL APPARATUS, ABSENCE OF, OR AGENESIS OF

SYNONYM:

-LACRIMAL CANAL, ACCESSORY

SYNONYM:

-LACRIMAL CANALICULA, SUPERNUMERARY

SYNONYM:

-LACRIMAL CANALICULUS, INCOMPLETE OR ABSENT

SYNONYM:

-LACRIMAL DUCT CLOSURE, CONGENITAL

Congenital lacrimal duct closure is the blockage of one or both tear ducts

SYNONYM:

-LACRIMAL DUCT, IMPATENCY OF

Impatency of the lacrimal duct is failure of canalization of the nasolacrimal duct, usually at the inferior ostium

SYNONYM:

-LACRIMAL GLAND, ABERRANT

Aberrant lacrimal gland is a misplaced lacrimal gland

SYNONYM:

-LACRIMAL GLAND, ECTOPIA OF

Ectopia of the lacrimal gland is an abnormal position of a lacrimal gland

SYNONYM:

-LACRIMAL PUNCTA, SUPERNUMERARY

Supernumerary lacrimal puncta are additional openings of the lacrimal canal

SYNONYM:

-LACRIMAL PUNCTUM, ABSENCE OF

SYNONYM:

-LACRIMAL PUNCTUM, INFERIOR, ATRESIA OF

Atresia of the inferior lacrirnal punctum is absence of a canal in the inferior lacrimal punctum

SYNONYM:

-LACRIMONASAL DUCT, SUPERNUMERARY

Supernumerary lacrimonasal duet is an extra passage from the lacrimal sac to the nasal meatus

SYNONYM:

-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

-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

-LENTICONUS, ANTERIOR

Anterior lenticonus is a cone-shaped protrusion of the lens, anteriorly

SYNONYM:

-LENTICONUS, POSTERIOR

Posterior lenticonus is a cone-shaped protrusion of the lens, posteriorly

SYNONYM:

-LENTIGLOBUS

Lentiglobus is a spheroid protrusion of the posterior lens surface

SYNONYM:

-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

-MACULA, HETEROTOPIA OF

Heterotopia of macula is the abnormal location of the macula

SYNONYM:

-MEGALOCORNEA

Megalocornea is an unusually large cornea

SYNONYM:

-MEGALOPAPILLA

Megalopapilla is an unusually large optic disc

SYNONYM:

-MEGALOPHTHALMOS

Megalophthalmos is an eye of abnormally large size

SYNONYM:

-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

-MELANOSIS, CONGENITAL SCLERAL

Congenital scleral melanosis is the pigmentation of superficial layers of the sclerotic coat of the eye

SYNONYM: Schmidt-Rimpler Syndrome

-MELANOSIS OCULI

Melanosis oculi is an increase of or excessive pigmentation in part of the eye

SYNONYM:

-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

-MEMBRANA CAPSULARIS LENTIS POSTERIOR

Membrana capsularis lentis posterior is a persistent nutritive capsule over the posterior surface of the crystalline lens

SYNONYM:

-MEMBRANA EPIPAPILLARIS

Membrana epipapillaris is an abnormal fibrous membrane over the optic disc

SYNONYM:

-MICROBLEPHARON

Microblepharon is an abnormally small eyelid

SYNONYM:

-MICROCORNEA

Microcornea is an abnormally thin and flat cornea

SYNONYM:

-MICROPHAKIA

Microphakia is a small spherical lens

SYNONYM: Spherophakia, Microlentia

-MICROPHTHALMOS

Microphthalmos is an abnormally small eyeball

SYNONYM: Microphthalmia

-NYSTAGMUS, CONGENITAL

Congenital nystagmus is the presence of regular or rhythmic oscillations of the eyeballs. This may be horizontal, vertical, or rotary

SYNONYM:

-OCULAR MUSCLE, ABSENT

SYNONYM:

-OPACITY, CONGENITAL VITREOUS

Congenital vitreous opacity is nontransparency of the vitreous body

SYNONYM:

-OPTIC DISC, CONGENITAL PIGMENTATION OF

Congenital pigmentation of the optic disc is the presence of pigment epithelium in or near the optic disc

SYNONYM:

-OPTIC DISC, GLIOSIS OF

Gliosis of the optic disc is an area of persistent neuroglia covering part or all of the optic disc

SYNONYM:

-OPTIC DISC, PITS OF

Pits of the optic disc are variable sized excavations of the optic nerve head

SYNONYM:

-OPTIC NERVE, APLASIA OF

SYNONYM:

-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:

-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:

-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

-OPTIC NERVE, PIGMENTATION OF

Pigmentation of the optic nerve is discoloration of the optic nerve

SYNONYM:

-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

-OPTIC PAPILLA, PIGMENTED

Pigmented optic papilla is an abnormal deposition of pigment in the discus nervi optici

SYNONYM:

-POLYCORIA

Polycoria is the presence of two or more pupils in one eye

SYNONYM:

-PUPIL, ATRESIA OF

Atresia of pupil is a pupil without an opening

SYNONYM:

-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:

-RETINA, COLOBOMA OF

Coloboma of retina is a defect in the retina

SYNONYM: Coloboma Retinae, Coloboma Maculae

-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:

-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

-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

-RETINOSCHISIS, CONGENITAL

Congenital retinoschisis is a splitting of the retinal layers, or a detachment of the retina

SYNONYM:

-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:

-SCLEROTICS, BLUE

Blue sclerotics is an abnormal translucency of the sclera, enabling the color of the uvea to be seen

SYNONYM:

-VEILS, PREPAPILLARY

Prepapillary veils are rnesodermal remnants of the hyaloid system

SYNONYM: Glial Remnants

-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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Knowledge Base Adopted from

The American Collage of Obstetricians and Gynecologists

Committee on Terminology

Edward C. Hughes, M.D., Chairman and Editor-in-Chief

Craig W. Muckle, M.D., Co-Chairman

Members

Russell R. deAlvarez, M.D.

C. Paul Hodgkinson, M.D.

Myron Gordon, M.D.

Schuyler G. Kohl, M.D.

W.R. Carl Tupper, M.D.

Paul D. Bruns, M.D.

Luigi Mastroianni, M.D.

Roy G. Holly, M.D.

Donald G. McKay, M.D.

S. Leon Israel, M.D.

Edith L. Potter, M.D.