Article
RDS gene mutations causing retinitis pigmentosa or macular degeneration lead to the same abnormality in photoreceptor function.
Investigative ophthalmology & visual science - 1 Jul 1994
Kemp C M, Jacobson S G, Cideciyan A V, Kimura A E, Sheffield V C, Stone E M
Abstract excerpt
PURPOSE: To investigate functional abnormalities in mutations in the peripherin (RDS) gene leading to different clinical types of autosomal dominant retinal disease--macular degeneration and retinitis pigmentosa. METHODS: Patients from two families, one with a mutation in codon 167 (Gly167Asp) le...
Topics
- Adolescent
- Adult
- Dark Adaptation
- Electroretinography
- Eye Proteins
- Female
- Fundus Oculi
- Humans
- Intermediate Filament Proteins
- Macular Degeneration
- Male
- Membrane Glycoproteins
- Middle Aged
- Mutation
- Nerve Tissue Proteins
- Peripherins
- Photoreceptor Cells
- Retinitis Pigmentosa