Article
A mild phenotype of autosomal dominant retinitis pigmentosa is associated with the rhodopsin mutation Pro-267-Leu.
Ophthalmic genetics - 1 Jun 1997
Ponjavic V, Abrahamson M, Andréasson S, Ehinger B, Fex G, Polland W
Abstract excerpt
By screening blood samples from patients with autosomal dominant retinitis pigmentosa, we found in one of the families a rhodopsin mutation (Pro-267-Leu), which segregates with the disease in two affected and five unaffected family members. Here, we present the results of the clinical evaluation...
Topics
- Adult
- Chromosome Aberrations
- Chromosome Disorders
- Electroretinography
- Exons
- Eye Diseases, Hereditary
- Family Health
- Female
- Genes, Dominant
- Genetic Testing
- Heterozygote
- Humans
- Male
- Middle Aged
- Pedigree
- Phenotype
- Point Mutation
- Proline