A novel rhodopsin point mutation, proline-170-histidine, associated with sectoral retinitis pigmentosa

Shaheen P Shah; Fulton Wong; Dianne M Sharp; Andrea L Vincent

doi:10.3109/13816810.2014.924014

A novel rhodopsin point mutation, proline-170-histidine, associated with sectoral retinitis pigmentosa

Ophthalmic Genet. 2014 Dec;35(4):241-7. doi: 10.3109/13816810.2014.924014. Epub 2014 Jun 11.

Authors

Shaheen P Shah¹, Fulton Wong, Dianne M Sharp, Andrea L Vincent

Affiliation

¹ Department of Ophthalmology, New Zealand National Eye Centre, Faculty of Health and Medical Science, University of Auckland , Auckland , New Zealand .

PMID: 24918165
DOI: 10.3109/13816810.2014.924014

Abstract

Identification and classification of all retinitis pigmentosa (RP) causing mutations contribute to a better understanding of disease variants. In this report we describe a New Zealand family, of European heritage, affected by a sectoral type RP phenotype in association with a novel rhodopsin mutation (proline-170-histidine) in a highly conserved site.

Keywords: Proline170histidine; retinitis pigmentosa; rhodopsin.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Electrophysiology
Histidine / chemistry
Histidine / genetics
Humans
Male
Pedigree
Point Mutation*
Proline / chemistry
Proline / genetics
Retinitis Pigmentosa / genetics*
Retinitis Pigmentosa / pathology
Rhodopsin / chemistry
Rhodopsin / genetics*
Visual Acuity / physiology
Visual Fields / physiology
White People

Substances

Histidine
Rhodopsin
Proline