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

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

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)221-223
Number of pages3
JournalMolecular Genetics and Metabolism
Volume109
Issue number2
DOIs
Publication statusPublished - Jun 2013

Keywords

  • Gaucher disease
  • Glucocerebrosidase
  • Optical coherence tomography
  • Parkinson's disease

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology
  • Endocrinology, Diabetes and Metabolism

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