Universität zu Köln

Sergouniotis, Panagiotis I., McKibbin, Martin, Robson, Anthony G., Bolz, Hanno J., De Baere, Elfride ORCID: 0000-0002-5609-6895, Mueller, Philipp L., Heller, Raoul, El-Asrag, Mohammed E., Van Schil, Kristof, Plagnol, Vincent ORCID: 0000-0002-5597-9215, Toomes, Carmel ORCID: 0000-0001-8373-9545, Ali, Manir ORCID: 0000-0003-3204-3788, Holder, Graham E., Issa, Peter Charbel ORCID: 0000-0002-0351-6673, Leroy, Bart P., Inglehearn, Chris F. and Webster, Andrew R. (2015). Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene. Invest. Ophthalmol. Vis. Sci., 56 (13). S. 8083 - 8091. ROCKVILLE: ASSOC RESEARCH VISION OPHTHALMOLOGY INC. ISSN 1552-5783

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Abstract

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 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 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. 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 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.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Sergouniotis, Panagiotis I. UNSPECIFIED UNSPECIFIED UNSPECIFIED McKibbin, Martin UNSPECIFIED UNSPECIFIED UNSPECIFIED Robson, Anthony G. UNSPECIFIED UNSPECIFIED UNSPECIFIED Bolz, Hanno J. UNSPECIFIED UNSPECIFIED UNSPECIFIED De Baere, Elfride UNSPECIFIED orcid.org/0000-0002-5609-6895 UNSPECIFIED Mueller, Philipp L. UNSPECIFIED UNSPECIFIED UNSPECIFIED Heller, Raoul UNSPECIFIED UNSPECIFIED UNSPECIFIED El-Asrag, Mohammed E. UNSPECIFIED UNSPECIFIED UNSPECIFIED Van Schil, Kristof UNSPECIFIED UNSPECIFIED UNSPECIFIED Plagnol, Vincent UNSPECIFIED orcid.org/0000-0002-5597-9215 UNSPECIFIED Toomes, Carmel UNSPECIFIED orcid.org/0000-0001-8373-9545 UNSPECIFIED Ali, Manir UNSPECIFIED orcid.org/0000-0003-3204-3788 UNSPECIFIED Holder, Graham E. UNSPECIFIED UNSPECIFIED UNSPECIFIED Issa, Peter Charbel UNSPECIFIED orcid.org/0000-0002-0351-6673 UNSPECIFIED Leroy, Bart P. UNSPECIFIED UNSPECIFIED UNSPECIFIED Inglehearn, Chris F. UNSPECIFIED UNSPECIFIED UNSPECIFIED Webster, Andrew R. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-386096
DOI:	10.1167/iovs.15-17604
Journal or Publication Title:	Invest. Ophthalmol. Vis. Sci.
Volume:	56
Number:	13
Page Range:	S. 8083 - 8091
Date:	2015
Publisher:	ASSOC RESEARCH VISION OPHTHALMOLOGY INC
Place of Publication:	ROCKVILLE
ISSN:	1552-5783
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language AUTOPHAGY; VARIANTS; HYDROXYCHLOROQUINE; PROGRESSION Multiple languages Ophthalmology Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/38609