choroideremia

choroideremia /cho·roid·er·e·mia/ (ko-roi″der-e´me-ah) an X-linked primary choroidal degeneration which, in males, eventually leads to blindness as degeneration of the retinal pigment epithelium progresses to complete atrophy; in females, it is nonprogressive and vision is usually normal.

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cho·roid·e·re·mi·a (kôroi-d-rm-, kô-)

n.

1. Congenital absence of the choroid of the eye.

2. The progressive degeneration of the choroid in males, beginning with peripheral pigmentary retinopathy, followed by atrophy of the retinal pigment epithelium and of the choriocapillaris, night blindness, progressive constriction of visual fields, and finally complete blindness.

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choroideremia

[kôr′oidərē′mē·ə]

Etymology: Gk, chorion, skin + eidos, form + erēmia, destitution

hereditary primary degeneration of the retina, transmitted as an X-linked trait and beginning in the first decade of life. In males, the earliest symptom is usually night blindness, followed by constricted visual field and eventual blindness as the degeneration of the pigment epithelium of the retina progresses to complete atrophy. In females, it is nonprogressive; usually there is normal vision and often an atypical pigmentary retinopathy.

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choroideremia [ko-roi″der-e´me-ah]

hereditary (X-linked) primary choroidal degeneration that, in males, eventually leads to blindness as degeneration of the retinal pigment epithelium progresses to complete atrophy; in females, it is nonprogressive and vision is usually normal.

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choroideremia 

A bilateral, X-linked, recessive inherited degeneration of the choroid and retinal pigment epithelium characterized by night blindness (nyctalopia) which begins in early youth. Most males are myopic. The condition is mild and non-progressive in females. Both males and females display a salt and pepper appearance of the fundus, but in males it advances to complete atrophy and eventually blindness. Syn. progressive choroidal atrophy; progressive tapetochoroidal atrophy. See chromosome; inheritance.

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choroideremia

Tapetochoroidal dystrophy A form of X-linked hereditary retinal degeneration–other hereditary retinal degenerations include Refsum's disease, gyrate atrophy and abetaipoproteinemia–characterized by a centripetal loss of visual fields due to a gene mutation in chromosome Xq21