Article
Dominant retinitis pigmentosa associated with two rhodopsin gene mutations. Leu-40-Arg and an insertion disrupting the 5'-splice junction of exon 5.
Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Nov 1993
Kim R Y, al-Maghtheh M, Fitzke F W, Arden G B, Jay M, Bhattacharya S S, Bird A C
Abstract excerpt
OBJECTIVE: To determine the phenotypes of two families in which retinitis pigmentosa cosegregates with a rhodopsin (RHO) gene mutation: a leucine-to-arginine change at codon 40 (Leu-40-Arg) in one family, and a 150-base pair insertion that disrupts the RHO 5'-splice junction of exon 5 in another....
Topics
- Adult
- Arginine
- Dark Adaptation
- Electroretinography
- Exons
- Female
- Fundus Oculi
- Humans
- Leucine
- Male
- Middle Aged
- Mutation
- Pedigree
- RNA Splicing
- Retinitis Pigmentosa
- Rhodopsin
- Visual Acuity
- Visual Fields