Table of Contents
Genes, Volume 8, Issue 7 (July 2017)
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Cover Story Retinitis pigmentosa (RP), a group of disorders leading to degeneration of the eye’s retina, is [...] Read more. Retinitis pigmentosa (RP), a group of disorders leading to degeneration of the eye’s retina, is genetically heterogeneous. EYS (eyes shut homolog) gene mutations are a major cause of autosomal recessive (ar) RP worldwide and are among the photoreceptor ciliopathies. Without a mammalian disease model for EYS-RP, we studied photoreceptor function and structure non-invasively in patients. Longitudinal data showed EYS-RP to be a more rapidly progressive disease than other arRP ciliopathies. View the paper