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

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.

KEYWORDS::

• Gaucher Disease
• retina
• paediatrics
• optical coherent tomography

ACKNOWLEDGMENTS

We acknowledge the Clinical Photography Department, Auckland District Health Board, for obtaining the clinical images.

Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.