Regional distribution of retinal degeneration in patients with the proline to histidine mutation in codon 23 of the rhodopsin gene

Edwin M Stone; Alan E Kimura; Brian E Nichols; Peyman Khadivi; Gerald A Fishman; Val C Sheffield

doi:10.1016/S0161-6420(91)32046-3

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Regional distribution of retinal degeneration in patients with the proline to histidine mutation in codon 23 of the rhodopsin gene

Journal article

Peer reviewed

Regional distribution of retinal degeneration in patients with the proline to histidine mutation in codon 23 of the rhodopsin gene

Edwin M Stone, Alan E Kimura, Brian E Nichols, Peyman Khadivi, Gerald A Fishman and Val C Sheffield

Ophthalmology (Rochester, Minn.), Vol.98(12), pp.1806-1813

12/1991

DOI: 10.1016/S0161-6420(91)32046-3

PMID: 1775314

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Abstract

Mutations in the rhodopsin gene are associated with as many as one quarter of all cases of autosomal dominant retinitis pigmentosa (RP). A number of different rhodopsin mutations have been reported but only the proline to histidine mutation in codon 23 (Pro-23-His) has been well characterized clinically. One recent report described a "sectoral" distribution of the retinal degeneration associated with this mutation, while another reported only that pigment was present in all four quadrants in 13 of 17 patients. This asymmetric distribution of pigmentation and visual field loss may prove to be an important clinical sign of a type of RP with a relatively good visual prognosis. The authors present a family with Pro-23-His rhodopsin-associated RP in which all six affected individuals had a regional distribution of the retinal degeneration in which the inferior hemisphere of the retina was most severely affected.

Mutation

Polymerase Chain Reaction

Amino Acid Sequence

Retinal Degeneration - genetics

Humans

Middle Aged

Histidine - genetics

Molecular Sequence Data

Retinitis Pigmentosa - genetics

Male

Proline - genetics

Codon

Rhodopsin - genetics

DNA - analysis

Pedigree

Visual Fields

Base Sequence

Adolescent

Adult

Female

Aged

Retinal Degeneration - pathology

Details

Title: Subtitle: Regional distribution of retinal degeneration in patients with the proline to histidine mutation in codon 23 of the rhodopsin gene
Creators: Edwin M Stone - Department of Ophthalmology, University of Iowa College of Medicine, Iowa City
Alan E Kimura - University of Iowa
Brian E Nichols - University of Iowa
Peyman Khadivi - University of Iowa
Gerald A Fishman - University of Illinois Chicago
Val C Sheffield - University of Iowa
Resource Type: Journal article
Publication Details: Ophthalmology (Rochester, Minn.), Vol.98(12), pp.1806-1813
DOI: 10.1016/S0161-6420(91)32046-3
PMID: 1775314
NLM abbreviation: Ophthalmology
ISSN: 0161-6420
eISSN: 1549-4713
Publisher: United States
Grant note: P3OH027748 / NIOSH CDC HHS EY01792 / NEI NIH HHS EY08426 / NEI NIH HHS
Language: English
Date published: 12/1991
Academic Unit: Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
Record Identifier: 9983980007202771

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