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

Mol Genet Metab. 2013 Jun;109(2):221-3. doi: 10.1016/j.ymgme.2013.04.001. Epub 2013 Apr 10.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

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


  • Glucosylceramidase