| Author/Editor | 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 | |
| Title | Disease expression in autosomal recessive retinal dystrophy associated with mutations in the DRAM2 gene | |
| Type | članek | |
| Vol. and No. | Letnik 56, št. 13 | |
| Publication year | 2015 | |
| Volume | str. 8083-8090 | |
| ISSN | 1552-5783 - Investigative ophthalmology & visual science | |
| Language | eng | |
| Abstract | Purpose.To determine the disease course of retinal dystrophy caused by recessive variants inthe DRAM2 (damage-regulated autophagy modulator 2) gene. Methods. Sixteen individuals with DRAM2-retinopathy were examined (six families; agerange, 19-56 years, includes one pre-symptomatic case). The change in visual acuity over timewas 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. Results. All symptomatic patients presented with central visual loss (15/15) unaccompanied either by nyctalopia or light-hypersensitivity; most (11/15) developed symptoms in the thirddecade of life. A granular macular appearance, often with associated white/yellow dots, wasan 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-oldpre-symptomatic individual. The central atrophic area enlarged over time and fundoscopy showed peripheral degeneration in seven of the nine individuals that were examined>-10years after becoming symptomatic; some of these subjects developed nyctalopia and light hypersensitivity. Electrophysiology revealed generalized retinal dysfunction in three of thefive individuals that were tested>-10 years after becoming symptomatic.Conclusions.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 hyperauto fluorescent ring on FAF can be a suggestive feature. The retinal periphery is frequently affected later in the disease process. Photo receptor degeneration is likely to be the primary event and future studies onDRAM2-retinopathy are expected to provide important insights into retinal autophagy. | |
| Keywords | retinal dystrophy autophagy DRAM2 retinalna distrofija autofagija DRAM2 |