Article
A Swedish family with a mutation in the peripherin/RDS gene (Arg-172-Trp) associated with a progressive retinal degeneration.
Ophthalmic genetics - 1 Sept 1998
Ekström U, Andréasson S, Ponjavic V, Abrahamson M, Sandgren O, Nilsson-Ehle P, Ehinger B
Abstract excerpt
PURPOSE: To clinically characterize a Swedish family with autosomal dominant retinitis pigmentosa due to a mutation, Arg-172-Trp, in the peripherin/RDS gene. METHODS: Full clinical evaluation including kinetic visual field testing, measurement of dark-adaptation threshold, and full-field electror...
Topics
- Adult
- Amino Acid Substitution
- Disease Progression
- Electroretinography
- Female
- Fundus Oculi
- Humans
- Intermediate Filament Proteins
- Male
- Membrane Glycoproteins
- Middle Aged
- Mutation
- Nerve Tissue Proteins
- Pedigree
- Peripherins
- Retinal Degeneration
- Retinitis Pigmentosa
- Sweden