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PMID: 7488604 Published · ppublish English Journal Article

Bimodal expressivity in dominant retinitis pigmentosa genetically linked to chromosome 19q.

The British journal of ophthalmology ·Vol. 79 ·No. 9 ·1995-09-00 ·Pages 841-6

Evans K, al-Maghtheh M, Fitzke FW, Moore AT, Jay M, Inglehearn CF, Arden GB, Bird AC

Abstract

A clinical, psychophysical, and electrophysiologic study was undertaken of two autosomal dominant retinitis pigmentosa pedigrees with a genetic mutation assigned to chromosome 19q by linkage analysis. Members with the abnormal haplotype were either symptomatic with adolescent onset nyctalopia, restricted visual fields, and non-detectable electroretinographic responses by 30 years of age, or asymptomatic with normal fundus appearance and minimal or no psychophysical or electroretinographic abnormalities. There was no correlation in the severity in parents and their offspring. Pedigree analysis suggested that although the offspring of parents with the genetic mutation were at 50% risk of having the genetic defect, the risk of being symptomatic during a working lifetime was only 31%. Such bimodal phenotypic expressivity in these particular pedigrees may be explained by a second, allelic genetic influence and may be a phenomenon unique to this genetic locus. Genetic counselling in families expressing this phenotype can only be based on haplotype analysis since clinical investigations, even in the most elderly, would not preclude the presence of the mutant gene.

MeSH Terms
Adult Aged Chromosomes, Human, Pair 19/genetics Dark Adaptation Electrophysiology Electroretinography Female Genetic Linkage Haplotypes Heterozygote Humans Male Middle Aged Pedigree Retinitis Pigmentosa/genetics Sensory Thresholds Visual Fields
Authors & Affiliations
8 authors, click to expand affiliations / ORCID
Evans K
Department of Clinical Ophthalmology and Electrodiagnostics, Moorfields Eye Hospital, London.
al-Maghtheh M
Fitzke F W
Moore A T
Jay M
Inglehearn C F
Arden G B
Bird A C
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Article Info
Journal
The British journal of ophthalmology
Abbr.
Br J Ophthalmol
ISSN
0007-1161
DOI
10.1136/bjo.79.9.841
Published
1995-09-00
Pages
841-6
Language
English
Region
England
NLM ID
0421041
PMCID
PMC505271
Subset
IM
External Links
PubMed source DOI: 10.1136/bjo.79.9.841 PMC Full Text View journal details
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