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Eye Diseases, Hereditary
| Definition: |
Transmission of gene defects or chromosomal aberrations/abnormalities which are expressed in extreme variation in the structure or function of the eye. These may be evident at birth, but may be manifested later with progression of the disorder. |
| Previously Indexed: |
Eye Diseases/genetics (1966-1989) |
Eye Diseases, Hereditary Categories.
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Albinism - General term for a number of inherited defects of amino acid metabolism in which there is a deficiency or absence of pigment in the eyes, skin, or hair. |
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Choroideremia - An X chromosome-linked abnormality characterized by atrophy of the choroid and degeneration of the retinal pigment epithelium causing night blindness. |
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Gyrate Atrophy - Progressive, autosomal recessive, diffuse atrophy of the choroid, pigment epithelium, and sensory retina that begins in childhood. |
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Retinitis Pigmentosa - Hereditary, progressive degeneration of the neuroepithelium of the retina characterized by night blindness and progressive contraction of the visual field. |
Eye Diseases, Hereditary Definitions and Terms
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