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Ectopia lentis, chorioretinal dystrophy and myopia. A new autosomal recessive syndrome. 1993

K G Noble, and S Bass, and J Sherman
Department of Ophthalmology, New York University Medical Center, New York.

Four of five siblings born of a consanguineous marriage demonstrated abnormalities of the lens (ectopia lentis and dense cataracts) and retina (generalized tapetoretinal dystrophy and total retinal detachment) associated with myopia. This association in an autosomal recessive pedigree has not been previously noted.

UI MeSH Term Description Entries
D008297 Male Males
D009216 Myopia A refractive error in which rays of light entering the EYE parallel to the optic axis are brought to a focus in front of the RETINA when accommodation (ACCOMMODATION, OCULAR) is relaxed. This results from an overly curved CORNEA or from the eyeball being too long from front to back. It is also called nearsightedness. Nearsightedness,Myopias,Nearsightednesses
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D012162 Retinal Degeneration A retrogressive pathological change in the retina, focal or generalized, caused by genetic defects, inflammation, trauma, vascular disease, or aging. Degeneration affecting predominantly the macula lutea of the retina is MACULAR DEGENERATION. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p304) Degeneration, Retinal,Degenerations, Retinal,Retinal Degenerations
D002386 Cataract Partial or complete opacity on or in the lens or capsule of one or both eyes, impairing vision or causing blindness. The many kinds of cataract are classified by their morphology (size, shape, location) or etiology (cause and time of occurrence). (Dorland, 27th ed) Cataract, Membranous,Lens Opacities,Pseudoaphakia,Cataracts,Cataracts, Membranous,Lens Opacity,Membranous Cataract,Membranous Cataracts,Opacities, Lens,Opacity, Lens,Pseudoaphakias
D004479 Ectopia Lentis Congenital displacement of the lens resulting from defective zonule formation. Lentis, Ectopia
D004596 Electroretinography Recording of electric potentials in the retina after stimulation by light. Electroretinographies
D005124 Eye Abnormalities Congenital absence of or defects in structures of the eye; may also be hereditary. Abnormalities, Eye,Abnormality, Eye,Eye Abnormality
D005260 Female Females
D005654 Fundus Oculi The concave interior of the eye, consisting of the retina, the choroid, the sclera, the optic disk, and blood vessels, seen by means of the ophthalmoscope. (Cline et al., Dictionary of Visual Science, 4th ed) Fundus of the Eye,Ocular Fundus,Fundus, Ocular

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