Avtor/Urednik		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
Naslov		Disease expression in autosomal recessive retinal dystrophy associated with mutations in the DRAM2 gene
Tip		članek
Vol. in št.		Letnik 56, št. 13
Leto izdaje		2015
Obseg		str. 8083-8090
ISSN		1552-5783 - Investigative ophthalmology & visual science
Jezik		eng
Abstrakt		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.
Proste vsebinske oznake		retinal dystrophy autophagy DRAM2 retinalna distrofija autofagija DRAM2