A Novel Compound Heterozygous Mutation in the <i>CYP4V2</i> Gene in a Japanese Patient with Bietti’s Crystalline Corneoretinal Dystrophy

Abstract

A novel compound heterozygous mutation was found in the CYP4V2 gene of a patient with BCD. This previously unreported c.1168C>T mutation causes a missense mutation (p.R390C) in the CYP4V2 protein.