Article
Ocular findings in patients with autosomal dominant retinitis pigmentosa and Cys110Phe, Arg135Gly, and Gln344stop mutations of rhodopsin.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie - 1 Sept 1997
Kremmer S, Eckstein A, Gal A, Apfelstedt-Sylla E, Wedemann H, Rüther K, Zrenner E
Abstract excerpt
This report describes ocular findings obtained in four patients from three families with autosomal dominant retinitis pigmentosa (adRP) due to missense mutations in the rhodopsin gene. Phenotypes were characterized by standard ophthalmologic examinations, visual fields, electroretinography (ERG),...
Topics
- Adolescent
- Adult
- Child
- Child, Preschool
- Dark Adaptation
- Disease Progression
- Electroretinography
- Female
- Humans
- Male
- Middle Aged
- Pedigree
- Phenotype
- Photoreceptor Cells
- Point Mutation