Article
Autosomal dominant retinitis pigmentosa mapping to chromosome 7p exhibits variable expression.
The British journal of ophthalmology - 1 Jan 1995
Kim R Y, Fitzke F W, Moore A T, Jay M, Inglehearn C, Arden G B, Bhattacharya S S, Bird A C
Abstract excerpt
The genetic locus causing autosomal dominant retinitis pigmentosa (adRP) has recently been mapped in a large English family to chromosome 7p. Eight affected members of this family were studied electrophysiologically and psychophysically with dark adapted static threshold perimetry and dark adaptometry. The phenotypes observed fell into three categories: minimally affected with no symptoms, and normal (or near...
Topics
- Adult
- Chromosome Mapping
- Chromosomes, Human, Pair 7
- Dark Adaptation
- Electroretinography
- Female
- Gene Expression
- Genes, Dominant
- Humans
- Male
- Middle Aged