Article
Clinical characteristics of 14 japanese patients with X-linked juvenile retinoschisis associated with XLRS1 mutation.
Ophthalmic genetics - 1 Sept 2000
Shinoda K, Ishida S, Oguchi Y, Mashima Y
Abstract excerpt
To characterize the clinical features associated with XLRS1 gene mutations in Japanese patients with X-linked juvenile retinoschisis (xlRS), we evaluated the following data on 14 Japanese males from 13 unrelated families with XLRS1 mutations: age and symptoms at first visit to an ophthalmologist and ophthalmologic findings including visual acuity, refractive errors, fundoscopic appearance, and results of...
Topics
- Adolescent
- Adult
- Blotting, Southern
- Child
- Child, Preschool
- Electroretinography
- Eye Proteins
- Fundus Oculi
- Genetic Linkage
- Genotype
- Humans
- Infant
- Japan
- Male
- Mutation
- Phenotype
- Retina
- Retinal Degeneration