Article
Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene.
Investigative ophthalmology & visual science - 1 Dec 2015
Sergouniotis Panagiotis I, McKibbin Martin, Robson Anthony G, Bolz Hanno J, De Baere Elfride, Müller Philipp L, Heller Raoul, El-Asrag Mohammed E, Van Schil Kristof, Plagnol Vincent, Toomes Carmel, Ali Manir, Holder Graham E, Charbel Issa Peter, Leroy Bart P, Inglehearn Chris F, Webster Andrew R
Abstract excerpt
PURPOSE: To determine the disease course of retinal dystrophy caused by recessive variants in the DRAM2 (damage-regulated autophagy modulator 2) gene. METHODS: Sixteen individuals with DRAM2-retinopathy were examined (six families; age range, 19-56 years, includes one pre-symptomatic case). The change in visual acuity over time was studied, and electrophysiology (n = 6), retina-tracking perimetry (n = 1), fundus...
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