Mutations in the 11-cis retinol dehydrogenase gene in Japanese patients with fundus albipunctatus

PURPOSE. To detect mutations in the RDH5 gene encoding 11-cis retinol dehyd rogenase in patients from Japan with fundus albipunctatus. METHODs. Polymerase chain reaction and direct genomic sequencing techniques were used to detect mutations of the RDH5 coding exons (exons 2-5) in two unrelated patients with fundus albipunctatus. Selected alleles that altered the coding region or intron splice sites were evaluated further through se gregation analysis in the families of the index cases. RESULTS. Two novel RDH5 mutations were identified. One of these was a misse nse mutation Val264Gly in exon 5, and the other was an in-frame insertion o f 3 bp in exon 5. CONCLUSIONS. The data indicate that mutations in RDH5 are the primary cause of fundus albipunctatus.