Article
Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation in CEP290.
Investigative ophthalmology & visual science - 4 Sept 2018
Valkenburg Dyon, van Cauwenbergh Caroline, Lorenz Birgit, van Genderen Mies M, Bertelsen Mette, Pott Jan-Willem R, Coppieters Frauke, de Zaeytijd Julie, Thiadens Alberta A H J, Klaver Caroline C W, Kroes Hester Y, van Schooneveld Mary J, Preising Markus, Hoyng Carel B, Leroy Bart P, van den Born L Ingeborgh, Collin Rob W J
Abstract excerpt
Purpose: To describe the phenotypic spectrum of retinal disease caused by the c.2991+1655A>G mutation in CEP290 and to compare disease severity between homozygous and compound heterozygous patients. Methods: Medical records were reviewed for best-corrected visual acuity (BCVA), age of onset, fundoscopy descriptions. Foveal outer nuclear layer (ONL) and ellipsoid zone (EZ) presence was assessed using...
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