gyrate atrophy of choroid and retina
- gyrate atrophy of choroid and retina
- an autosomal recessive form of tapetoretinal degeneration, caused by mutations in the OAT gene (locus: 10q26) that result in ornithine aminotransferase deficiency and hyperornithinemia. It is marked by ring-shaped areas of thinning in the periphery of the fundus that enlarge and become confluent, resulting in tunnel vision; night blindness and other disturbances of vision follow.
Medical dictionary.
2011.
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gyrate atrophy — n progressive degeneration of the choroid and pigment epithelium of the retina that is inherited as an autosomal recessive trait and is characterized esp. by myopia, constriction of the visual field, night blindness, and cataracts * * * a… … Medical dictionary
gyrate atrophy — a hereditary condition causing night blindness and constricted visual fields, usually developing in the third decade of life. Clinically it is characterized by a progressive atrophy of the choroid and retina … The new mediacal dictionary
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ornithine aminotransferase — or·ni·thine ami·no·trans·fer·ase (orґnĭ thēn ə me″no transґfər ās) an enzyme of the transferase class that catalyzes the conversion of ornithine to Δ1 pyrroline 5 carboxylate via transfer of the ornithine amino … Medical dictionary
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ornithine — 2,5 Diaminovaleric acid; the l isomer is the amino acid formed when l arginine is hydrolyzed by arginase; not a constituent of proteins, but an important intermediate in the urea cycle; elevated levels seen in certain defects of the urea cycle. o … Medical dictionary