Thr4Lys rhodopsin mutation is associated with autosomal dominant retinitis pigmentosa of the cone-rod type in a small Dutch family
- 1 January 1994
- journal article
- other
- Published by Taylor & Francis in Ophthalmic Genetics
- Vol. 15 (2) , 51-60
- https://doi.org/10.3109/13816819409098864
Abstract
A mother and daughter with autosomal dominant retinitis pigmentosa (adRP) were found to carry a cytosine-to-adenine transversion mutation at codon 4 of the rhodopsin gene. This mutation predicts a substitution of lysine for threonine at one of the glycosylation sites in the rhodopsin molecule (Thr4Lys). Both patients presented with a similar phenotype including a tigroid pattern of the posterior pole and a regional predilection for degenerative pigmentary changes in the inferior retina with corresponding visual field defects. The electroretinographic pattern was suggestive of RP of the cone-rod type. This report documents the clinical findings associated with this defined mutation of the rhodopsin gene.Keywords
This publication has 22 references indexed in Scilit:
- Rhodopsin mutations in autosomal dominant retinitis pigmentosaHuman Mutation, 1993
- Ocular Findings Associated With a Rhodopsin Gene Codon 106 MutationArchives of Ophthalmology (1950), 1992
- Clinical and ERG data in a family with autosomal dominant RP and Pro-347-Arg mutation in the rhodopsin geneDocumenta Ophthalmologica, 1992
- Ocular Findings Associated With Rhodopsin Gene Codon 17 and Codon 182 Transition Mutations in Dominant Retinitis PigmentosaArchives of Ophthalmology (1950), 1992
- Rhodopsin Thr58Arg Mutation in a Family with Autosomal Dominant Retinitis PigmentosaOphthalmology, 1991
- Regional Distribution of Retinal Degeneration in Patients with the Proline to Histidine Mutation in Codon 23 of the Rhodopsion GeneOphthalmology, 1991
- Ocular Findings Associated With a Rhodopsin Gene Codon 58 Transversion Mutation in Autosomal Dominant Retinitis PigmentosaArchives of Ophthalmology (1950), 1991
- Ocular Findings in Patients with Autosomal Dominant Retinitis Pigmentosa and Rhodopsin, Proline-347-LeucineAmerican Journal of Ophthalmology, 1991
- Autosomal Dominant Sectoral Retinitis PigmentosaArchives of Ophthalmology (1950), 1991
- Ocular Findings in Patients With Autosomal Dominant Retinitis Pigmentosa and a Rhodopsin Gene Defect (Pro-23-His)Archives of Ophthalmology (1950), 1991