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

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-yell...

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Bibliographic Details
Published in:Ophthalmic genetics 1999, Vol.20 (2), p.117-120
Main Authors: Yamada, Tetsuya, Matsumoto, Masayuki, Kadoi, Chiharu, Nagaki, Yasunori, Hayasaka, Yoriko, Hayasaka, Seiji
Format: Article
Language:English
Subjects:
Adult
Aged
Arrestin - genetics
Base Sequence - genetics
DNA - genetics
Electroretinography
Female
Gene Deletion
Humans
Japan
Male
Mutation - genetics
Night Blindness - genetics
Night Blindness - physiopathology
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Summary: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.
ISSN:1381-6810
1744-5094
DOI:10.1076/opge.20.2.117.2293