High resolution adaptive optics retinal image analysis in early‐stage central areolar choroidal dystrophy with a PRPH2 mutation

Abstract

PurposeTo report clinical features in Japanese patients with early stage (stage 1 and 2) central areolar choroidal dystrophy (CACD).MethodsFive family members participated in this study. We performed comprehensive ophthalmic examination, including adaptive optics (AO) retinal imaging. Mutation analysis of the PRPH2 gene was performed by Sanger sequencing. The protocol of this study conformed to the tenets of the Declaration of Helsinki and was approved by the Institutional Review Board of The Jikei University School of Medicine.ResultsFour family members possessed a heterozygous PRPH2 mutation (p.R172Q), however, a member with a mutation did not show any ophthalmological abnormality. Two patients showed mild parafoveal retinal dystrophy and reduction of cone density revealed by AO analysis.ConclusionsWe described a CACD family with marked intrafamilial phenotypic variations. Our results indicate that parafoveal cone photoreceptors are affected primarily at the early‐stage CACD.