Mutations in the 11-cis retinol dehydrogenase gene in Japanese patients with Fundus albipunctatus.
OBJECTIVE
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.
Hirose
E
E
Department of Ophthalmology, Osaka University Medical School. NTT West Osaka Hospital, Japan.
Inoue
Y
Y
Morimura
H
H
Okamoto
N
N
Fukuda
M
M
Yamamoto
S
S
Fujikado
T
T
Tano
Y
Y
D000429:Alcohol Oxidoreductases / Q000235:genetics*; D004252:DNA Mutational Analysis; D004596:Electroretinography; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D007564:Japan / Q000453:epidemiology; D008875:Middle Aged; D016254:Mutagenesis, Insertional; D020125:Mutation, Missense; D009755:Night Blindness / Q000201:enzymology / Q000208:ethnology / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA
D000429:Alcohol Oxidoreductases; C022520:retinol dehydrogenase