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Functional retinal changes in Gaucher disease

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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.

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Authors and Affiliations

  1. Eye clinic Technical University Munich, Ismaninger Str. 22, 81675, Munich, Germany

    Seid-Fatima Seidova, Konstantin Kotliar, Frauke Foerger, Matthias Klopfer & Ines Lanzl

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  1. Seid-Fatima Seidova
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  2. Konstantin Kotliar
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  3. Frauke Foerger
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  4. Matthias Klopfer
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  5. Ines Lanzl
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Correspondence to Ines Lanzl.

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Seidova, SF., Kotliar, K., Foerger, F. et al. Functional retinal changes in Gaucher disease. Doc Ophthalmol 118, 151–154 (2009). https://doi.org/10.1007/s10633-008-9142-9

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  • DOI: https://doi.org/10.1007/s10633-008-9142-9

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