Article
Clinical course of cone dystrophy caused by mutations in the RPGR gene.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie - 1 Oct 2011
Thiadens Alberta A H J, Soerjoesing Gyan G, Florijn Ralph J, Tjiam A G, den Hollander Anneke I, van den Born L Ingeborgh, Riemslag Frans C, Bergen Arthur A B, Klaver Caroline C W
Abstract excerpt
BACKGROUND: Mutations in the RPGR gene predominantly cause rod photoreceptor disorders with a large variability in clinical course. In this report, we describe two families with mutations in this gene and cone involvement. METHODS: We investigated an X-linked cone dystrophy family (1) with 25 affected males, 25 female carriers, and 21 non-carriers, as well as a small family (2) with one affected and one...
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