Article
Autosomal dominant retinitis pigmentosa with intrafamilial variability and incomplete penetrance in two families carrying mutations in PRPF8.
Investigative ophthalmology & visual science - 2 Dec 2011
Maubaret Cécilia G, Vaclavik Veronika, Mukhopadhyay Rajarshi, Waseem Naushin H, Churchill Amanda, Holder Graham E, Moore Anthony T, Bhattacharya Shomi S, Webster Andrew R
Abstract excerpt
PURPOSE: The aim of this study was to report detailed genotype/phenotype correlation in two British autosomal dominant retinitis pigmentosa (adRP) families with recently described mutations in PRPF8. METHODS: Ten affected members from the two families (excluded for PRPF31 mutations) were assessed clinically. Seven subjects had fundus photography; some had electrophysiology, autofluorescence imaging, and visual...
Topics
- Adult
- Aged
- Aged, 80 and over
- Carrier Proteins
- Chromosomes, Human, Pair 17
- DNA Mutational Analysis
- Electroretinography
- Exons
- Female
- Fluorescein Angiography
- Genes, Dominant
- Genetic Linkage
- Genotype