Article
Autosomal dominant retinitis pigmentosa with a rhodopsin mutation (Arg-135-Trp). Disease phenotype in a Swedish family.
Acta ophthalmologica Scandinavica - 1 Apr 1997
Ponjavic V, Abrahamson M, Andréasson S, Ehinger B, Fex G
Abstract excerpt
We here present the clinical phenotype in 6 patients from a family with autosomal dominant retinitis pigmentosa found to carry a point mutation in the rhodopsin gene (arginine-135-tryptophan). The mutation is the second found by mutation screening of DNA from 20 Swedish families with dominant ret...
Topics
- Adolescent
- Adult
- Arginine
- Child
- DNA Mutational Analysis
- DNA Primers
- Electroretinography
- Female
- Fundus Oculi
- Genes, Dominant
- Genetic Testing
- Humans
- Leucine
- Male
- Middle Aged
- Molecular Sequence Data
- Pedigree
- Phenotype