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Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations

Renner, A. B. ; Fiebig, B. ; Weber, Bernhard H. F. ; Wissinger, B. ; Andreasson, S. ; Gal, A. ; Cropp, E. ; Kohl, S. ; Kellner, U.



Abstract

Purpose To describe the phenotypic variability in 22 patients with PRPH2 gene mutations and to report six novel mutations. Design Retrospective study. Methods Clinical examinations included color vision testing, perimetry, fundus autofluorescence (FAF), fluorescein angiography, optical coherence tomography (OCT), and full-field and multifocal electroretinography (International Society ...

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