Analysis of the pre-retinal opacities in Gaucher Disease using spectral domain optical coherent tomography

Ophthalmic Genet. 2012 Dec;33(4):253-6. doi: 10.3109/13816810.2012.716489. Epub 2012 Sep 6.

Abstract

Fundal opacities have been reported in patients with Gaucher disease, a rare autosomal recessive lysosomal storage disease, prior to the advent of optical coherent tomography. This report provides a detailed analysis of the fundal opacities in a 14-year-old girl with genetically proven Gaucher disease using spectral domain optical coherent tomography. It illustrates clearly that these opacities were pre-retinal opacities located at the vitreo-retinal interface associated with localized posterior vitreous detachments, rather than vitreous opacities as previously suggested in the literature.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Enzyme Replacement Therapy
  • Female
  • Fluorescein Angiography
  • Gaucher Disease / diagnosis*
  • Gaucher Disease / therapy
  • Glucosylceramidase / therapeutic use
  • Humans
  • Retinal Diseases / diagnosis*
  • Retinal Diseases / therapy
  • Tomography, Optical Coherence*
  • Vitreous Detachment / diagnosis

Substances

  • Glucosylceramidase
  • imiglucerase