Unesterified cholesterol in Schnyder's corneal crystalline dystrophy

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.