A novel compound heterozygou mutation in the RDH5 gene in a patient with fundu albipunctatu

PURPOE: To report a novel compound heterozygou mutation in the 11-ci retinol dehydrogenae (RDH5) gene in a patient with fundu albipunctatu. METHOD: We examined the RDH5 gene genotype in member of a Japanee family. Clinical examination howed that the proband had fundu albipunctatu and hi aunt had retiniti pigmentoa. The RDH5 gene wa analyzed by direct genomic equencing. REULT: The proband had a compound heterozygotic miene mutation of Val177Gly (GTC→GGC) and Arg280Hi (CGC→CAC) in hi RDH5 gene. Hi mother had the Arg280Hi mutation and hi father had the Val177Gly mutation, but hi father’ aunt who ha typical retiniti pigmentoa had the wild type RDH5 gene. The occurrence of Val177Gly ha not been reported in the RDH5 gene of fundu albipunctatu. CONCLUION: A novel compound heterozygou miene mutation in the RDH5 gene wa found in a patient with fundu albipunctatu.