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Article
January 1996

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

Author Affiliations

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

Arch Ophthalmol. 1996;114(1):72-78. doi:10.1001/archopht.1996.01100130068011
Abstract

Objective:  To characterize clinical findings associated with mutations in codon 244 (Asn244His) and codon 184 (Tyr184Ser) of the peripherin/RDS gene.

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

Setting:  University medical center.

Patients:  Four affected members of two Japanese families with autosomal dominant cone-rod dystrophy associated with transversion mutations in codon 244 (Asn244His) and codon 184 (Tyr184Ser) of the peripherin/RDS gene.

Results:  Characteristic features included the initial symptoms of decreased visual acuity, macular degeneration, central or paracentral scotoma, cone-mediated electroretinographic responses that were more impaired than rod-mediated responses, and pigmentary degeneration in the midperipheral retina in the late stage. These phenotypic features corresponded to cone-rod dystrophy type 2a by the classification of Szlyk and associates.

Conclusions:  The Asn244His and Tyr184Ser mutations in the peripherin/RDS gene cause cone-rod dystrophy type 2a. These findings imply that a mutation in codon 244 or codon 184 of the peripherin/RDS gene affects the functions and/or structural stability of cones and rods.

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