Genotype–Phenotype Analysis of Bietti’s Crystalline Dystrophy in Patients with<i>CYP4V2</i>Mutations

Abstract

BCD patients with homozygous IVS6-8del17bp/insGC or compound heterozygous IVS6-8del17bp/insGC and IVS8-2A>G mutations appeared to have more severe disease phenotype based on electrophysiological testing. The level of visual loss in BCD is related to the severity of retinal thinning.