Journal
OPHTHALMIC GENETICS
Volume 33, Issue 4, Pages 253-256Publisher
INFORMA HEALTHCARE
DOI: 10.3109/13816810.2012.716489
Keywords
Gaucher Disease; retina; paediatrics; optical coherent tomography
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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.
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