1 results match your criteria: "Biología y Genética Molecular Hospital de Terrassa[Affiliation]"
High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population.
Mol Vis
June 2007
Servicio de Laboratorio, Biología y Genética Molecular Hospital de Terrassa, Ctra. Torrebonica, Terrassa, Barcelona, Spain.
Purpose: Mutations in the peripherin/retinal degeneration slow (RDS) gene are a known cause of various types of central retinal dystrophies. The purpose of this study was to determine the prevalence of mutations in the peripherin/RDS gene in Spanish patients with different types of autosomal dominant macular dystrophy.
Methods: Ophthalmic and electrophysiological examination was performed in patients from 61 unrelated autosomal dominant macular dystrophy (adMD) Spanish families.