creening for Mutation in CYP4V2 Gene in Japanee Patient With Bietti’ Crytalline Corneoretinal Dytrophy

Purpoe To decribe the clinical and genetic characteritic of ix Japanee familie with Bietti’ crytalline corneoretinal dytrophy (BCD). Deign Cae report and reult of DNA analyi. Method Mutation creening wa performed on ix unrelated patient with BCD by direct equencing. The clinical feature were characterized by the viual acuity, lit-lamp biomicrocopy, electroretinography, fluorecein angiography, and kinetic viual field teting. Reult An identical IV6 to 8delTCATACAGGTCATCGCG/inGC mutation in the CYP4V2 gene wa identified in five of the patient with BCD; the ixth patient had a novel Trp340X mutation in the CYP4V2 gene. Three patient howed crytalline-like depoit at the limbu by pecular microcopy. Ophthalmic finding of all patient had a rapid progreion after age 50 year. Concluion Our finding ugget that the IV6 to 8delTCATACAGGTCATCGCG/inGC mutation i a common mutation in Japanee patient with BCD. Although phenotypic variability wa found, the natural coure wa almot the ame in all of our patient.