A novel compound heterozygous mutation in the RDH5 gene in a patient with fundus albipunctatus

PURPOSE: To report a novel compound heterozygous mutation in the Il cis ret inol dehydrogenase (RDH5) gene in a patient with fundus albipunctatus. METHOD: We examined the RDH5 gene genotype in members of a Japanese family, Clinical examination showed that the proband had fundus albipunctatus and his aunt had retinitis pigmentosa, The RDH5 gene was analyzed by direct gen omic sequencing. RESULTS: The proband had a compound heterozygotic missense mutation of Val1 77Gly (GTC-->GGC) and Arg280His (CGC-->CAC) in his RDH5 gene. His mother ha d the Arg280His mutation and his father had the Val177Gly mutation, but his father's aunt who has typical retinitis pigmentosa had the wild type RDH5 gene, The occurrence of Val177Gly has not been reported in the RDH5 gene of fundus albipunctatus. CONCLUSION: A novel compound heterozygous missense mutation in the RDH5 gen e was found in a patient with fundus albipunctatus. (C) 2000 by Elsevier Sc ience Inc. All rights reserved.