Article
Central Visual Function and Genotype-Phenotype Correlations in PDE6A-Associated Retinitis Pigmentosa.
Investigative ophthalmology & visual science - 2 May 2022
Kuehlewein Laura, Straßer Torsten, Blumenstock Gunnar, Stingl Katarina, Fischer M Dominik, Wilhelm Barbara, Zrenner Eberhart, Wissinger Bernd, Kohl Susanne, Weisschuh Nicole, Zobor Ditta
Abstract excerpt
Purpose: Autosomal recessive retinitis pigmentosa (arRP) can be caused by mutations in the phosphodiesterase 6A (PDE6A) gene. Here, we describe the natural course of disease progression with respect to central retinal function (i.e., visual acuity, contrast sensitivity, and color vision) and establish a detailed genotype--phenotype correlation. Methods: Forty-four patients (26 females; mean age ± SD, 43 ± 13...
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