Article
CLINICAL PRESENTATION AND DISEASE COURSE OF USHER SYNDROME BECAUSE OF MUTATIONS IN MYO7A OR USH2A.
Retina (Philadelphia, Pa.) - 1 Aug 2017
Testa Francesco, Melillo Paolo, Bonnet Crystel, Marcelli Vincenzo, de Benedictis Antonella, Colucci Raffaella, Gallo Beatrice, Kurtenbach Anne, Rossi Settimio, Marciano Elio, Auricchio Alberto, Petit Christine, Zrenner Eberhart, Simonelli Francesca
Abstract excerpt
PURPOSE: To evaluate differences in the visual phenotype and natural history of Usher syndrome caused by mutations in MYO7A or USH2A, the most commonly affected genes of Usher syndrome Type I (USH1) and Type II (USH2), respectively. METHODS: Eighty-eight patients with a clinical diagnosis of USH1 (26 patients) or USH2 (62 patients) were retrospectively evaluated. Of these, 48 patients had 2 disease-causing...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.