Functional retinal changes in Gaucher disease

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-ol...

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Bibliographic Details
Published in:Documenta ophthalmologica 2009-04, Vol.118 (2), p.151-154
Main Authors: Seidova, Seid-Fatima, Kotliar, Konstantin, Foerger, Frauke, Klopfer, Matthias, Lanzl, Ines
Format: Article
Language:English
Subjects:
Anterior Eye Segment - pathology
Biological and medical sciences
Case Report
Electroretinography
Errors of metabolism
Evoked Potentials, Visual
Female
Gaucher Disease - pathology
Gaucher Disease - physiopathology
Gaucher Disease - therapy
Humans
Intraocular Pressure - physiology
Lipids (lysosomal enzyme disorders, storage diseases)
Medical sciences
Medicine
Medicine & Public Health
Metabolic diseases
Night Vision - physiology
Ophthalmology
Retina - pathology
Retina - physiopathology
Retinal Vessels - pathology
Retinopathies
Splenectomy
Tomography, Optical Coherence
Visual Acuity - physiology
Visual Fields - physiology
Young Adult
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Summary: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.
ISSN:0012-4486
1573-2622
DOI:10.1007/s10633-008-9142-9