Autosomal Dominant Cone-Rod Dystrophy Associated With Mutations in Codon 244 (Asn244His) and Codon 184 (Tyr184Ser) of the Peripherin/RDS Gene

doi:10.1001/archopht.1996.01100130068011

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Vol. 114 No. 1, January 1996

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Ophthalmic Molecular Genetics

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Autosomal Dominant Cone-Rod Dystrophy Associated With Mutations in Codon 244 (Asn244His) and Codon 184 (Tyr184Ser) of the Peripherin/RDS Gene

Mitsuru Nakazawa, MD; Emi Kikawa, MD; Yasushi Chida, MD; Yuko Wada, MD; Takashi Shiono, MD; Makoto Tamai, MD

Arch Ophthalmol. 1996;114(1):72-78.

Abstract

Objective
To characterize clinical findings associated with mutationsin codon 244 (Asn244His) and codon 184 (Tyr184Ser) of the peripherin/RDSgene.

Design
Case reports with clinical features and results of fluoresceinangiography, electroretinography, kinetic visual field testing,and DNA analysis.

Setting
University medical center.

Patients
Four affected members of two Japanese families with autosomaldominant cone-rod dystrophy associated with transversion mutationsin codon 244 (Asn244His) and codon 184 (Tyr184Ser) of the peripherin/RDSgene.

Results
Characteristic features included the initial symptoms of decreasedvisual acuity, macular degeneration, central or paracentralscotoma, cone-mediated electroretinographic responses that weremore impaired than rod-mediated responses, and pigmentary degenerationin the midperipheral retina in the late stage. These phenotypicfeatures corresponded to cone-rod dystrophy type 2a by the classificationof Szlyk and associates.

Conclusions
The Asn244His and Tyr184Ser mutations in the peripherin/RDSgene cause cone-rod dystrophy type 2a. These findings implythat a mutation in codon 244 or codon 184 of the peripherin/RDSgene affects the functions and/or structural stability of conesand rods.

Author Affiliations

From the Department of Ophthalmology, Tohoku University School of Medicine, Sendai, Japan.

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