title: Unesterified cholesterol in Schnyder's corneal crystalline dystrophy.
abstract: We examined a 51-year-old woman who had bilateral corneal crystalline deposits unassociated with xanthelasma or systemic involvement. Her son had similar corneal lesions. Plasma cholesterol and apolipoprotein A-I and B levels were normal in both patients. Histopathologic examination of the corneal button in the mother obtained at the time of keratoplasty disclosed lipid deposits that stained with oil red O as well as with filipin, a fluorescent probe that specifically detects unesterified cholesterol. Electron microscopy showed abnormal accumulation of lipid and cholesterol in the central and paracentral basal epithelium, Bowman's layer, and superficial stroma.
authors.forename: M M
authors.initials: MM
authors.lastname: Rodrigues
authors.forename: H S
authors.initials: HS
authors.lastname: Kruth
authors.forename: J H
authors.initials: JH
authors.lastname: Krachmer
authors.forename: R
authors.initials: R
authors.lastname: Willis
mesh_terms: D002784:Cholesterol / Q000378:metabolism*; D003315:Cornea / Q000378:metabolism / Q000648:ultrastructure; D003317:Corneal Dystrophies, Hereditary / Q000378:metabolism* / Q000628:therapy; D016039:Corneal Transplantation; D003460:Crystallization; D005260:Female; D005372:Filipin; D006801:Humans; D008854:Microscopy, Electron; D008875:Middle Aged
chemical_list: D005372:Filipin; D002784:Cholesterol