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

• Authors: Alisdair McNeill, Gloria Roberti, Gerassimos Lascaratos, Derralynn Hughes, Atul Mehta, David F Garway-Heath, Anthony H V Schapira
• Journal: Molecular genetics and metabolism (Mol Genet Metab) Vol. 109 Issue 2 Pg. 221-3 (06 2013) ISSN: 1096-7206 [Electronic] United States
• PMID: 23639447 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2013 The Authors. Published by Elsevier Inc. All rights reserved.

Chemical References

• Glucosylceramidase

Topics

• Aged
• Aged, 80 and over
• Female
• Gaucher Disease (complications, genetics, pathology)
• Glucosylceramidase (genetics)
• Heterozygote
• Humans
• Male
• Middle Aged
• Pilot Projects
• Retinal Degeneration (diagnosis, etiology, genetics)
• Retinal Ganglion Cells (pathology)
• Tomography, Optical Coherence