Article
Visual function and gene analysis in a family with Oguchi's disease.
Ophthalmic research - 1 Jan 1998
Yoshii M, Murakami A, Akeo K, Nakamura A, Shimoyama M, Ikeda Y, Kikuchi Y, Okisaka S, Yanashima K, Oguchi Y
Abstract excerpt
A family with 1 case of retinitis pigmentosa (III-1) and 2 cases of Oguchi's disease (III-2, 3) was examined in terms of electrophysiology as well as molecular biology. The proband (III-3), a 42-year-old female, and 2 older brothers (III-1, 2, aged 52 and 45 years) and 2 unaffected members in the...
Topics
- Adult
- Arrestin
- Base Sequence
- Electroretinography
- Evoked Potentials, Visual
- Eye Diseases, Hereditary
- Female
- Fundus Oculi
- Humans
- Male
- Middle Aged
- Mutation
- Pedigree
- Retinitis Pigmentosa
- Rhodopsin
- Vision, Ocular