Article
Delineating the Clinical Phenotype of Patients With the c.629C>G, p.Pro210Arg Mutation in Peripherin-2.
Investigative ophthalmology & visual science - 8 Jul 2022
Conley Shannon M, McClard Cynthia K, Mwoyosvi Maggie L, Alkadhem Niyaf, Radojevic Bojana, Klein Martin, Birch David, Ellis Ashley, Icks Sonny W, Guddanti Tejesh, Bennett Lea D
Abstract excerpt
Purpose: More than 200 different mutations in peripherin-2 (PRPH2) are associated with multiple subtypes of inherited retinal diseases (IRDs), including retinitis pigmentosa and cone or macular diseases. Our goal was to understand how the poorly characterized PRPH2 mutation p.Pro210Arg (P210R) affects visual function and retinal structure as well as gain insight into the mechanism driving the clinical pathology....
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