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  • Title: Autosomal dominant cone-rod dystrophy associated with mutations in codon 244 (Asn244His) and codon 184 (Tyr184Ser) of the peripherin/RDS gene.
    Author: Nakazawa M, Kikawa E, Chida Y, Wada Y, Shiono T, Tamai M.
    Journal: Arch Ophthalmol; 1996 Jan; 114(1):72-8. PubMed ID: 8540854.
    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 (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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