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Pronunciation: ko-roy-der-e'me-a

Definition: 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.

Synonym(s): progressive choroidal atrophy, progressive tapetochoroidal dystrophy

[choroid + G. eremia, absence]

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© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.