Work

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

Year: 2013

Type: article

Study design: Observational Study

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.

Source: Molecular Genetics and Metabolism

DOI: 10.1016/j.ymgme.2013.04.001

Authors: Alisdair McNeill, Gloria Roberti, Gerassimos Lascaratos, Derralynn Hughes, Atul Mehta, David F. Garway-Heath, Anthony H.V. Schapira

Institutions: UCL Queen Square Institute of Neurology, University College London, Moorfields Eye Hospital NHS Foundation Trust, NIHR Moorfields Biomedical Research Centre, The Royal Free Hospital

Language: English

Topic: Lysosomal Storage Disorders Research

Subfield: Genetics (clinical)

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $3,680

Funders: Wellcome Trust, International Glaucoma Association, National Institute for Health and Care Research, Parkinson's UK, Moorfields Eye Hospital NHS Foundation Trust, Allergan, Medical Research Council

Awards: G2513708871, G2845388095, A systematic investigation into the pathogenesis and course of Parkinson's syndrome, G6265045657, A systematic investigation into the pathogenesis and course of Parkinson's syndrome.

OpenAlex ID: W1980315577

FWCI: 2.129

Cites: 15

Cited by: 36

Related to: 10