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.

Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.