1. Retinal thinning in Gaucher disease patients and carriers: Results of a pilot study.
- Author
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McNeill, Alisdair, Roberti, Gloria, Lascaratos, Gerassimos, Hughes, Derralynn, Mehta, Atul, Garway-Heath, David F., and Schapira, Anthony H.V.
- Subjects
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RETINA abnormalities , *PILOT projects , *GAUCHER'S disease , *GENETIC mutation , *DISEASE risk factors , *PARKINSON'S disease , *OPTICAL coherence tomography , *RETINAL ganglion cells , *PATIENTS - Abstract
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. [Copyright &y& Elsevier]
- Published
- 2013
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