title: Analysis of the pre-retinal opacities in Gaucher Disease using spectral domain optical coherent tomography.
abstract: 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.
authors.affiliation: Department of Ophthalmology, Faculty of Medical and Health Sciences, New Zealand National Eye Centre, University of Auckland, New Zealand.
authors.forename: Leo H N
authors.initials: LH
authors.lastname: Sheck
authors.forename: Callum J
authors.initials: CJ
authors.lastname: Wilson
authors.forename: Andrea L
authors.initials: AL
authors.lastname: Vincent
mesh_terms: D000293:Adolescent; D056947:Enzyme Replacement Therapy; D005260:Female; D005451:Fluorescein Angiography; D005776:Gaucher Disease / Q000175:diagnosis* / Q000628:therapy; D005962:Glucosylceramidase / Q000627:therapeutic use; D006801:Humans; D012164:Retinal Diseases / Q000175:diagnosis* / Q000628:therapy; D041623:Tomography, Optical Coherence; D020255:Vitreous Detachment / Q000175:diagnosis
chemical_list: D005962:Glucosylceramidase; C090568:imiglucerase