title: Functional retinal changes in Gaucher disease.
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.
authors.affiliation: Eye Clinic, Technical University Munich, Ismaninger Str. 22, 81675 Munich, Germany.
authors.forename: Seid-Fatima
authors.initials: SF
authors.lastname: Seidova
authors.forename: Konstantin
authors.initials: K
authors.lastname: Kotliar
authors.forename: Frauke
authors.initials: F
authors.lastname: Foerger
authors.forename: Matthias
authors.initials: M
authors.lastname: Klopfer
authors.forename: Ines
authors.initials: I
authors.lastname: Lanzl
mesh_terms: 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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