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Mutations in the 11-cis retinol dehydrogenase gene in Japanese patients with Fundus albipunctatus
E Hirose1, Y Inoue, H Morimura
1Department of Ophthalmology, Osaka University Medical School. NTT West Osaka Hospital, Japan.
Purpose:
To detect mutations in the RDH5 gene encoding 11-cis retinol dehydrogenase 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 segregation analysis in the families of the index cases.
Results:
Two novel RDH5 mutations were identified. One of these was a missense mutation Val264Gly in exon 5, and the other was an in-frame insertion of 3 bp in exon 5.
Conclusions:
The data indicate that mutations in RDH5 are the primary cause of fundus albipunctatus.