| 单词 |
macular dystrophy, vitelliform, adult onset |
| 释义 |
macular dystrophy, vitelliform, adult onset macular dystrophy, vitelliform, adult onset A rare, autosomal dominant retinopathy (OMIM:608161) with incomplete penetrance and highly variable expression. Patients usually become symptomatic in the fourth or fifth decade with a slow decline in visual acuity. Molecular pathology Defects of PRPH2, which encodes peripherin 2, cause adult-onset vitelliform macular dystrophy. |
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