Functional retinal changes in Gaucher disease

Doc Ophthalmol. 2009 Apr;118(2):151-4. doi: 10.1007/s10633-008-9142-9. Epub 2008 Sep 6.

Abstract

In Gaucher disease, sphingolipid glucosylceramide is accumulated in cells of the reticulo-endothelial system. This leads to the formation of "Gaucher cells," which are enlarged macrophages. In the eye, circumscript preretinal deposits are a pathognomonic feature. We describe the case of a 23-year-old woman with no subjective complaints but a reduced ERG response, leading to the suspicion that in addition to circumscript deposition diffuse accumulation of metabolic endproducts might be present in the retina in Gaucher patients.

Publication types

  • Case Reports

MeSH terms

  • Anterior Eye Segment / pathology
  • Electroretinography
  • Evoked Potentials, Visual
  • Female
  • Gaucher Disease / pathology*
  • Gaucher Disease / physiopathology*
  • Gaucher Disease / therapy
  • Humans
  • Intraocular Pressure / physiology
  • Night Vision / physiology
  • Retina* / pathology
  • Retina* / physiopathology
  • Retinal Vessels / pathology
  • Splenectomy
  • Tomography, Optical Coherence
  • Visual Acuity / physiology
  • Visual Fields / physiology
  • Young Adult