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Panagiotis I. Sergouniotis, Martin McKibbin, Anthony G. Robson, Hanno J. Bolz, Elfride De Baere, Philipp L. Müller, Raoul Heller, Mohammed E. El-Asrag, Kristof Van Schil, Vincent Plagnol, Carmel Toomes, UK Inherited Retinal Disease Consortium, Manir Ali, Graham E. Holder, Peter Charbel Issa, Bart P. Leroy, Chris F. Inglehearn, Andrew R. Webster; Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene. Invest. Ophthalmol. Vis. Sci. 2015;56(13):8083-8090. doi: 10.1167/iovs.15-17604.
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To determine the disease course of retinal dystrophy caused by recessive variants in the DRAM2 (damage-regulated autophagy modulator 2) gene.
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 autofluorescence (FAF) imaging (n = 6), and optical coherence tomography (OCT; n = 12) were performed.
All symptomatic patients presented with central visual loss (15/15) unaccompanied either by nyctalopia or light-hypersensitivity; most (11/15) developed symptoms in the third decade of life. A granular macular appearance, often with associated white/yellow dots, was an early fundoscopic feature. There was an ill-defined ring of hyperautofluorescence on FAF. Optical coherence tomography revealed loss of the ellipsoid zone perifoveally in a 19-year-old pre-symptomatic individual. The central atrophic area enlarged over time and fundoscopy showed peripheral degeneration in seven of the nine individuals that were examined ≥10 years after becoming symptomatic; some of these subjects developed nyctalopia and light hypersensitivity. Electrophysiology revealed generalized retinal dysfunction in three of the five individuals that were tested ≥10 years after becoming symptomatic.
Patients with DRAM2-retinopathy are typically asymptomatic in the first two decades of life and present with central visual loss and a maculopathy. A faint hyperautofluorescent ring on FAF can be a suggestive feature. The retinal periphery is frequently affected later in the disease process. Photoreceptor degeneration is likely to be the primary event and future studies on DRAM2-retinopathy are expected to provide important insights into retinal autophagy.
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