A family affected by novel C213W Mutation in PRPH2: Long-Term follow-up of CNV secondary to pattern dystrophy

Abstract

The authors describe a family of three related individuals with a previously unreported mutation in the PRPH2 gene (C213W), which is associated with pattern dystrophy simulating fundus flavimaculatus. Four eyes later developed exudative maculopathy with choroidal neovascularization, which required injections of intravitreal anti-vascular endothelial growth factor (VEGF). This study reports the effectiveness of anti-VEGF therapy and long-Term follow-up data in a family with a C213W mutation in the PRPH2 gene.