Corneal manifestations of X-linked ichthyosis in two brothers

Purpose. To report the unusual manifestation of X-linked ichthyosis in two brothers. Methods, Leukocyte separation and sterylsulfatase assay are perfo rmed to show the deficiency of sterylsulfatase. Results. Two brothers prese nted in our clinic with cutaneous alterations consistent with X-linked icht hyosis. Ocular examination disclosed fine, flour-like, punctate, evenly, an d diffusely distributed opacities of the posterior corneal stroma, close to Descemet membrane in both patients. In one patient, superficial, small, gr anular opacities were detected. They were gray in color and seemed to invol ve the epithelium and the subepithelial and anterior stromal layers. In bot h patients, the deficiency of sterylsulfatase could be shown and confirmed the diagnosis. Conclusions. Flour-like opacities in the posterior stroma ha ve been shown to be a common manifestation of X-linked ichthyosis. Though t he underlying biochemical defect in X-linked ichthyosis has been discovered , the question of how these opacities develop is still a subject of debate. Subepithelial stromal keratopathies or epithelial irregularities are uncom mon and are rarely described in the literature. The superficial corneal cha nges seen in one of our patients are unusual and are not similar to those r eported by other authors.