title: Morphological and biochemical assessment of the cornea in a Gaucher disease carrier with keratoconus.
abstract: Ocular abnormalities such as corneal opacities and some specific alterations in ocular movements have been described in the neuropathic forms of Gaucher disease. This study was designed to correlate the clinical, morphological and biochemical findings in the corneal button obtained after keratoplasty in a Gaucher disease carrier with keratoconus. Morphologically, the cornea showed keratocytes with marked dilatations of the rough endoplasmic reticulum and intracytoplasmic "dark inclusions"; the acidic lipid profiles presented alterations in the cornea of the Gaucher disease carrier when compared with healthy controls and a clear deficiency in beta-glucosidase activity was detected as well. Our data suggest that the cornea may serve as a good marker of an early target organ in lipid metabolism disorders such as Gaucher's disease.
authors.affiliation: Department of Ophthalmology, Medical School of Porto/Hospital São João.
authors.forename: J
authors.initials: J
authors.lastname: Salgado-Borges
authors.forename: A
authors.initials: A
authors.lastname: Silva-Araújo
authors.forename: M M
authors.initials: MM
authors.lastname: Lemos
authors.forename: M C
authors.initials: MC
authors.lastname: Sá-Miranda
authors.forename: P
authors.initials: P
authors.lastname: Abreu-Dias
authors.forename: M A
authors.initials: MA
authors.lastname: Tavares
mesh_terms: D000328:Adult; D001669:Biochemical Phenomena; D001671:Biochemistry; D003315:Cornea / Q000201:enzymology / Q000473:pathology*; D005260:Female; D005776:Gaucher Disease / Q000150:complications* / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D005994:Glycerophosphates / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D007091:Image Processing, Computer-Assisted; D007640:Keratoconus / Q000150:complications* / Q000378:metabolism / Q000473:pathology / Q000601:surgery; D015948:Keratoplasty, Penetrating; D050356:Lipid Metabolism; D010375:Pedigree; D001617:beta-Glucosidase / Q000378:metabolism; D001619:beta-N-Acetylhexosaminidases / Q000378:metabolism
chemical_list: D005994:Glycerophosphates; D001617:beta-Glucosidase; D001619:beta-N-Acetylhexosaminidases