Rhodopsin C110Y mutation causes a type 2 autosomal dominant retinitis pigmentosa

Elena Millá; Elise Héon; Pierre Alain Grounauer; Bertrand Piguet; Nicolas Ducrey; Edwin M Stone; Daniel F Schorderet; Francis L Munier

doi:10.1076/opge.19.3.131.2183

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Rhodopsin C110Y mutation causes a type 2 autosomal dominant retinitis pigmentosa

Journal article

Peer reviewed

Rhodopsin C110Y mutation causes a type 2 autosomal dominant retinitis pigmentosa

Elena Millá, Elise Héon, Pierre Alain Grounauer, Bertrand Piguet, Nicolas Ducrey, Edwin M Stone, Daniel F Schorderet and Francis L Munier

Ophthalmic genetics, Vol.19(3), pp.131-139

09/1998

DOI: 10.1076/opge.19.3.131.2183

PMID: 9810568

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Abstract

The RHO C110Y mutation has been recently reported to cause a phenotypically unspecified form of autosomal dominant retinitis pigmentosa (adRP). The study of a family affected with this mutation allowed us to hereby describe the genotype/phenotype correlation associated with the RHO C110Y mutation. A six-generation pedigree cosegregating adRP and RHO C110Y in ten accessible individuals was ophthalmologically investigated. All family members affected with RP went through complete eye examination and ERG testing. The disease first manifested with nyctalopia during adulthood and slowly progressed over the next decades towards tubular visual field defects and relatively preserved central vision. Ophthalmoscopically, the fundus remained almost unaltered until the end of the third decade of life, and then slowly progressed towards typical RP changes with minimal macular involvement by the eighth decade. Color vision remained unaltered. Earliest ERG alteration was limited to the rod system followed by a rod-cone pattern. Scotopic and photopic ERG were recordable until the fourth and sixth decades, respectively. RHO C110Y-associated adRP is characterized by a late onset and a mild progression compatible with type 2 or regional RP with little intrafamilial phenotypic variability and complete penetrance. Characterization of genotype-phenotype correlations plays a role in the improvement of genetic and prognostic counselling.

Electroretinography

Humans

Middle Aged

Retinitis Pigmentosa - genetics

Male

Genes, Dominant - physiology

Mutation - genetics

Disease Progression

Mutation - physiology

Vision, Ocular - physiology

Rhodopsin - genetics

Pedigree

Adult

Amino Acid Substitution - genetics

Female

Aged

Fundus Oculi

Retinitis Pigmentosa - pathology

Retinitis Pigmentosa - physiopathology

Fluorescein Angiography

Details

Title: Subtitle: Rhodopsin C110Y mutation causes a type 2 autosomal dominant retinitis pigmentosa
Creators: Elena Millá - Hôpital Ophtalmique Jules Gonin, Lausanne, Switzerland
Elise Héon
Pierre Alain Grounauer
Bertrand Piguet
Nicolas Ducrey
Edwin M Stone
Daniel F Schorderet
Francis L Munier
Resource Type: Journal article
Publication Details: Ophthalmic genetics, Vol.19(3), pp.131-139
DOI: 10.1076/opge.19.3.131.2183
PMID: 9810568
NLM abbreviation: Ophthalmic Genet
ISSN: 1381-6810
eISSN: 1744-5094
Publisher: England
Language: English
Date published: 09/1998
Academic Unit: Iowa Neuroscience Institute; Ophthalmology and Visual Sciences
Record Identifier: 9983979908902771

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5 Times Cited - Web of Science