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-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.
Seidova
Seid-Fatima
SF
Eye Clinic, Technical University Munich, Ismaninger Str. 22, 81675 Munich, Germany.
Kotliar
Konstantin
K
Foerger
Frauke
F
Klopfer
Matthias
M
Lanzl
Ines
I
D000869:Anterior Eye Segment / Q000473:pathology; D004596:Electroretinography; D005074:Evoked Potentials, Visual; D005260:Female; D005776:Gaucher Disease / Q000473:pathology* / Q000503:physiopathology* / Q000628:therapy; D006801:Humans; D007429:Intraocular Pressure / Q000502:physiology; D055254:Night Vision / Q000502:physiology; D012160:Retina / Q000473:pathology / Q000503:physiopathology; D012171:Retinal Vessels / Q000473:pathology; D013156:Splenectomy; D041623:Tomography, Optical Coherence; D014792:Visual Acuity / Q000502:physiology; D014794:Visual Fields / Q000502:physiology; D055815:Young Adult
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