To characterize clinical findings associated with mutations in codon 244 (Asn244His) and codon 184 (Tyr184Ser) of the peripherin/RDS gene.
Case reports with clinical features and results of fluorescein angiography, electroretinography, kinetic visual field testing, and DNA analysis.
University medical center.
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.
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.
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.
Nakazawa M, Kikawa E, Chida Y, Wada Y, Shiono T, Tamai M. Autosomal Dominant Cone-Rod Dystrophy Associated With Mutations in Codon 244 (Asn244His) and Codon 184 (Tyr184Ser) of the Peripherin/RDS Gene. Arch Ophthalmol. 1996;114(1):72–78. doi:10.1001/archopht.1996.01100130068011
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