RDS gene mutations causing retinitis pigmentosa or macular degeneration lead to the same abnormality in photoreceptor function

Colin M Kemp; Samuel G Jacobson; Artur V Cideciyan; Alan E Kimura; Val C Sheffield; Edwin M Stone

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RDS gene mutations causing retinitis pigmentosa or macular degeneration lead to the same abnormality in photoreceptor function

Journal article

Peer reviewed

RDS gene mutations causing retinitis pigmentosa or macular degeneration lead to the same abnormality in photoreceptor function

Colin M Kemp, Samuel G Jacobson, Artur V Cideciyan, Alan E Kimura, Val C Sheffield and Edwin M Stone

Investigative ophthalmology & visual science, Vol.35(8), pp.3154-3162

07/1994

PMID: 8045710

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Abstract

To investigate functional abnormalities in mutations in the peripherin (RDS) gene leading to different clinical types of autosomal dominant retinal disease--macular degeneration and retinitis pigmentosa. Patients from two families, one with a mutation in codon 167 (Gly167Asp) leading to macular degeneration and another with a mutation in codon 210 (Pro210Ser) leading to retinitis pigmentosa, were studied with clinical examinations and measurements of rod and cone sensitivities and dark adaptation, electroretinography, and rhodopsin levels. Mildly affected patients had sizable rod and cone electroretinograms, reduced levels of rhodopsin, and minor losses of sensitivity. In both mutations, there were delays of rod and cone dark adaptation after bleaching, and the adaptational abnormalities were observed in peripheral and central retinal locations. Analysis of the kinetics of rod adaptation indicates that the underlying abnormalities are similar in both mutations and that the effects of the mutations are similar to those caused by mild systemic vitamin A deficiency. Patients with the Gly167Asp and Pro210Ser mutations in the peripherin/RDS gene have widely different clinical phenotypes but show the same abnormality, slowed dark adaptation, of rod and cone photoreceptor function. The similarities of the characteristics of the adaptational abnormalities in the two genotypes suggest that, in addition to the structural roles normally assumed for it, peripherin influences or participates in the function of the visual cycle.

Mutation

Electroretinography

Peripherins

Macular Degeneration - physiopathology

Humans

Middle Aged

Retinitis Pigmentosa - genetics

Male

Nerve Tissue Proteins

Rhodopsin - metabolism

Dark Adaptation

Rhodopsin - genetics

Macular Degeneration - genetics

Visual Fields

Adolescent

Intermediate Filament Proteins - genetics

Adult

Female

Eye Proteins - genetics

Membrane Glycoproteins

Fundus Oculi

Photoreceptor Cells - physiology

Retinitis Pigmentosa - physiopathology

Details

Title: Subtitle: RDS gene mutations causing retinitis pigmentosa or macular degeneration lead to the same abnormality in photoreceptor function
Creators: Colin M Kemp - Department of Ophthalmology, University of Miami School of Medicine, Bascom Palmer Eye Institute, FL 33136
Samuel G Jacobson
Artur V Cideciyan
Alan E Kimura
Val C Sheffield
Edwin M Stone
Resource Type: Journal article
Publication Details: Investigative ophthalmology & visual science, Vol.35(8), pp.3154-3162
PMID: 8045710
NLM abbreviation: Invest Ophthalmol Vis Sci
ISSN: 0146-0404
eISSN: 1552-5783
Publisher: United States
Grant note: EY05627 / NEI NIH HHS EY08426 / NEI NIH HHS
Language: English
Date published: 07/1994
Academic Unit: Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
Record Identifier: 9983980085202771

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