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Eri Hirose, Yumiko Inoue, Hiroyuki Morimura, Norio Okamoto, Masakatsu Fukuda, Shuji Yamamoto, Takashi Fujikado, Yasuo Tano; Mutations in the 11-cis Retinol Dehydrogenase Gene in Japanese Patients with Fundus Albipunctatus. Invest. Ophthalmol. Vis. Sci. 2000;41(12):3933-3935.
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© ARVO (1962-2015); The Authors (2016-present)
purpose. To detect mutations in the RDH5 gene encoding
11-cis retinol dehydrogenase in patients from Japan with
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
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.
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