choroideremia

Progressive degeneration of the choroid in males, occasionally in females, 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; X-linked inheritance caused by mutation in the Rab escort protein-1 (REP1) gene on Xq; heterozygous females show a pigmentary retinopathy but without visual defect or peripheral progression. SYN: progressive choroidal atrophy, progressive tapetochoroidal dystrophy. [choroid + G. eremia, absence]

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cho·roi·de·re·mia or chiefly Brit cho·roi·de·rae·mia .kōr-.ȯid-ə-'rē-mē-ə, 'kȯr- n progressive degeneration of the choroid that is an X-linked trait chiefly affecting males and that is characterized by night blindness, constriction of the visual field, and eventual blindness

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cho·roid·er·e·mia (kor″oid-ər-eґme-ə) [choroid- + Gr. erēmia destitution] hereditary primary choroidal degeneration, 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 pigmented layer of the retina progresses to complete atrophy. In females, it is nonprogressive; usually there is normal vision and often an atypical pigmentary retinopathy. Called also progressive tapetochoroidal dystrophy.