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Yuko Wada, Toshiaki Abe, Nobuo Fuse, Makoto Tamai; A Frequent 1085delC/insGAAG Mutation in the RDH5 Gene in Japanese Patients with Fundus Albipunctatus. Invest. Ophthalmol. Vis. Sci. 2000;41(7):1894-1897.
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© ARVO (1962-2015); The Authors (2016-present)
purpose. To identify the frequency of a mutation of the RDH5 gene
in Japanese patients with hereditary retinal degeneration and to
characterize clinical findings for the patients associated with a
1085delC/insGAAG mutation in the RDH5 gene.
methods. Mutation screening by single-strand conformation polymorphism was
performed on 6 patients with fundus albipunctatus and 150 patients with
autosomal recessive retinitis pigmentosa. The DNA fragment that showed
abnormal mobility on SSCP was then sequenced. Clinical features were
characterized by visual acuity, slit-lamp biomicroscopy,
electroretinography, fluorescein angiography, kinetic visual field
testing, and dark adaptometry.
results. A novel 1085delC/insGAAG mutation in the RDH5 gene was
identified in all 6 patients, from 4 unrelated families with fundus
albipunctatus. The ophthalmic findings of each affected member were
very similar, which may provide the natural course of the phenotype
produced by the 1085delC/insGAAG mutation.
conclusions. A homozygous1085delC/insGAAG mutation in the RDH5 gene
produces fundus albipunctatus in Japanese patients. These
findings suggest that this mutation was a founder effect in Japanese
patients with fundus albipunctatus.
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