A frequent 1085 delC/insGAAG mutation in the RDH5 gene in Japanese patients with Fundus albipunctatus

Yuko Wada, Toshiaki Abe, Nobuo Fuse, Makoto Tamai

Research output: Contribution to journalArticlepeer-review

39 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)1894-1897
Number of pages4
JournalInvestigative Ophthalmology and Visual Science
Volume41
Issue number7
Publication statusPublished - 2000 Jan 1

ASJC Scopus subject areas

  • Ophthalmology
  • Sensory Systems
  • Cellular and Molecular Neuroscience

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