Article
Extensive intrafamilial and interfamilial phenotypic variation among patients with autosomal dominant retinal dystrophy and mutations in the human RDS/peripherin gene.
The British journal of ophthalmology - 1 Jan 1995
Apfelstedt-Sylla E, Theischen M, Rüther K, Wedemann H, Gal A, Zrenner E
Abstract excerpt
Clinical phenotypes of patients with mutations in the human RDS/peripherin gene are described. A 67-year-old woman, who carried a 1 base pair deletion in codon 307, presented with typical late onset autosomal dominant retinitis pigmentosa (RP). In another autosomal dominant pedigree, a nonsense m...
Topics
- Adult
- Aged
- Chromosome Deletion
- Color Perception
- Female
- Fundus Oculi
- Genes, Dominant
- Humans
- Intermediate Filament Proteins
- Male
- Membrane Glycoproteins
- Middle Aged
- Mutation
- Nerve Tissue Proteins
- Neuropeptides