Screening for Mutations in CYP4V2 Gene in Japanese Patients With Bietti's Crystalline Corneoretinal Dystrophy

Our findings suggest that the IVS6 to 8delTCATACAGGTCATCGCG/insGC mutation is a common mutation in Japanese patients with BCD. Although phenotypic variability was found, the natural course was almost the same in all of our patients.