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Ophthalmic Genet. 1999 Jun;20(2):117-20.

1147 del A mutation in the arrestin gene in Japanese patients with Oguchi disease.

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  • 1Department of Ophthalmology, Toyama Medical and Pharmaceutical University, Sugitani, Japan.

Abstract

We examined the sequence of the arrestin gene in two unrelated patients with Oguchi disease. A 35-year-old woman and a 72-year-old man underwent a complete ophthalmological examination, including evaluation of visual acuity and color vision, fundus examination, and electroretinography. A golden-yellow discoloration was observed in their fundi. After 30 minutes of dark adaptation, the discoloration in the fundus disappeared. A deletion of an adenine in codon 309 of exon 11 of the arrestin gene was identified in both patients. Mutations in the arrestin are common in Japanese patients with Oguchi disease.

PMID:
10420197
[PubMed - indexed for MEDLINE]
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