Corneal Dystrophy, Lisch Epithelial

Clinical Features

Lisch et al. (1992) described 5 family members and 3 unrelated patients (4 males, 4 females), aged 23 to 71 years, with bilateral or unilateral, gray, band-shaped, and feathery opacities that sometimes appeared in whorled patterns. Retroillumination showed that the opacities consisted of intraepithelial, densely crowded, clear microcysts. Light and electron microscopy disclosed diffuse vacuolization of the cytoplasm of epithelial cells in the affected area. Visual acuity was so reduced in 3 patients that abrasion of the corneal epithelium was performed. The corneal abnormalities recurred within months, with the same reduction in visual acuity as before. Onset occurred in childhood; similar amounts of opacities were observed in men and women. Immunohistochemistry showed scattered staining on Ki67, indicating no evidence of increased mitotic activity.

Mapping

Lisch et al. (2000) established that Lisch and Meesmann (122100) epithelial corneal dystrophies are genetically distinct. They examined 48 members of a family with an aggregation of Lisch corneal dystrophy. A total of 19 trait carriers were identified in 6 generations. No hereditary transmission from father to son was observed. Multipoint linkage analysis revealed linkage with a maximum lod score of 2.93 between markers DXYS233 and DXYS228X in the pseudoautosomal region at Xp22.3. Linkage was excluded for Xp22.2-qter.