central areolar choroidal dystrophy
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Pathology
- affect the posterior pole of the eye
- early lesions consist of a nonspecific area of granular hyperpigmentation at the fovea
- characteristic sign is a zone of atrophy that develops in the macula & involves the retinal pigment epithelium & the choriocapillaris, occurs several decades after onset
Genetics
- autosomal dominant
- associated with defects in PRPH2 (peripherin-2)