MACULAR DYSTROPHY ASSOCIATED WITH THE ARG172TRP SUBSTITUTION IN PERIPHERIN/RDS

20099 citationsJournal Article

Authors

Seema Anand · St James's University Hospital

Eamonn Sheridan · St James's University Hospital

Frances Cassidy · Institute of Molecular Medicine

Chris F. Inglehearn · Institute of Molecular Medicine

G. A. Williams · University of Leeds

Kelly Springell · Institute of Molecular Medicine

Victoria Allgar

Abstract

This paper demonstrates that visual prognosis in macular dystrophies associated with peripherin/RDS may be mutation specific and, for the Arg172Trp substitution, worse than the Arg142Trp and Arg172Gln substitutions.

Topics & Keywords

Retinal Diseases and Treatments Retinal Development and Disorders Cellular transport and secretion

Publication Details

Published in: Retina

Volume 29, Issue 5, pp. 682-688

DOI: 10.1097/iae.0b013e318198dbed

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MACULAR DYSTROPHY ASSOCIATED WITH THE ARG172TRP SUBSTITUTION IN PERIPHERIN/RDS

Authors

Abstract

Topics & Keywords

Publication Details