Article
The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy.
Investigative ophthalmology & visual science - 1 Sept 2010
Michaelides Michel, Gaillard Marie-Claire, Escher Pascal, Tiab Leila, Bedell Matthew, Borruat François-Xavier, Barthelmes Daniel, Carmona Ruben, Zhang Kang, White Edward, McClements Michelle, Robson Anthony G, Holder Graham E, Bradshaw Keith, Hunt David M, Webster Andrew R, Moore Anthony T, Schorderet Daniel F, Munier Francis L
Abstract excerpt
PURPOSE: To characterize in detail the phenotype of five unrelated families with autosomal dominant bull's eye maculopathy (BEM) due to the R373C mutation in the PROM1 gene. METHODS: Forty-one individuals of five families of Caribbean (family A), British (families B, D, E), and Italian (family C) origin, segregating the R373C mutation in PROM1, were ascertained. Electrophysiological assessment, fundus...
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