“CONE DYSTROPHY WITH SUPERNORMAL ROD ELECTRORETINOGRAM”: A COMPREHENSIVE GENOTYPE/PHENOTYPE STUDY INCLUDING FUNDUS AUTOFLUORESCENCE AND EXTENSIVE ELECTROPHYSIOLOGY

Abstract

Individuals with mutations in KCNV2 manifest a wide range of macular and autofluorescence abnormalities. A ring-like area of parafoveal high density autofluorescence is common. ERG amplitudes are variable, but the intensity-ERG response functions and bright flash ERG waveforms are pathognomonic.