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Retinal thinning in Gaucher disease patients and carriers: results of a pilot study

McNeill, A; Roberti, G; Lascaratos, G; Hughes, D; Mehta, A; Garway-Heath, DF; Schapira, AH; (2013) Retinal thinning in Gaucher disease patients and carriers: results of a pilot study. Molecular Genetics and Metabolism , 109 (2) 221 - 223. 10.1016/j.ymgme.2013.04.001. Green open access

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Abstract

Both Gaucher disease patients and heterozygous glucocerebrosidase mutation carriers are at increased risk of Parkinson's disease. Retinal thinning has been reported in early Parkinson's disease. Here we used optical coherence tomography to demonstrate thinning of the retinal ganglion cell layer in Gaucher disease patients and carriers who manifest clinical markers of potential early neurodegeneration. Optical coherence tomography may help identify Gaucher disease patients and carriers at increased risk of developing Parkinson's disease.

Type: Article
Title: Retinal thinning in Gaucher disease patients and carriers: results of a pilot study
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.ymgme.2013.04.001
Publisher version: http://dx.doi.org/10.1016/j.ymgme.2013.04.001
Language: English
Additional information: © 2013 The Authors. Published by Elsevier Inc. All rights reserved. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution and reproduction in any medium, provided the original author and source are credited. PMCID: PMC3682181
Keywords: Gaucher disease, Glucocerebrosidase, Optical coherence tomography, Parkinson's disease
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute > Research Department of Haematology
URI: https://discovery.ucl.ac.uk/id/eprint/1397289
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