Clinicopathologic study of the cornea in X-linked ichthyosis

Corneal changes are frequently associated with X-linked ichthyosis. We present the first ultrastructural study of posterior stromal and pre-Descemet membrane changes in X-linked ichthyosis, A histopathological and ultrastructural study was performed on a corneal button from a 64-year-old man. Examination revealed a thick amorphous subepithelial material composed of proteinaceous material, disorganized collagen fibers, and electron-dense granular material. Numerous round and elongated empty spaces, some containing polymorphic and lamellated electron-dense material, were present along the anterior aspect of the Descemet membrane and throughout the stroma. These changes resemble those seen in lecithin cholesterol acyltransferase disease and may represent accumulation of cholesterol sulfate.