choroidal dystrophy, central areolar type 2
choroidal dystrophy, central areolar type 2
A disorder (OMIM:613105) that affects the posterior pole of the eye. Early lesions consist of a non-specific patch of granular hyperpigmentation at the fovea; the characteristic feature of the disease—a sharply-demarcated area of macular atrophy of the pigment epithelium and choriocapillaris—occurs several decades after onset.Molecular pathology
Defects of PRPH2, which encodes peripherin 2, cause central areolar choroidal dystrophy type 2.