Article
Autosomal dominant cone-rod dystrophy associated with a Val200Glu mutation of the peripherin/RDS gene.
Retina (Philadelphia, Pa.) - 1 Jan 1996
Nakazawa M, Naoi N, Wada Y, Nakazaki S, Maruiwa F, Sawada A, Tamai M
Abstract excerpt
OBJECTIVE: Mutations of the peripherin/RDS gene have been reported in several kinds of retinal dystrophy, and they show a variety of manifestations. The authors identified a novel Val200Glu mutation of the peripherin/RDS gene in a Japanese family with autosomal dominant cone-rod dystrophy (CRD)....
Topics
- Adult
- Child
- DNA
- Electroretinography
- Eye Proteins
- Female
- Fundus Oculi
- Genotype
- Glutamine
- Humans
- Intermediate Filament Proteins
- Male
- Membrane Glycoproteins
- Membrane Proteins
- Nerve Tissue Proteins
- Pedigree
- Peripherins
- Phenotype