Autosomal dominant cone-rod dystrophy associated with mutations in codon 244 (Asn244His) and codon 184 (Tyr184Ser) of the peripherin/RDS gene
M. Nakazawa, E. Kikawa, Y. Chida, Y. Wada, T. Shiono and M. Tamai
Department of Ophthalmology, Tohoku University School of Medicine, Sendai, Japan.
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
(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 con-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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