Corneal opacities in Gaucher disease

PURPOSE: To describe the corneal findings in a variant of Gaucher disease. METHODS: Case report. In an 18-year-old man, ophthalmic and general clinica l evaluation, and enzymatic and molecular genetics studies were performed. RESULTS: Diffuse, well-defined, small, linear, or dotlike corneal opacities were observed through-out the posterior two thirds of the corneal stroma i n both eyes. The patient had calcific valvular heart disease. Enzymatic and ultrastructural studies were consistent with Gaucher disease. Analysis of the glucocerebrosidase gene disclosed homozygosity for a D409H mutation, CONCLUSION: Corneal opacities are a distinguishing ocular feature of the va riant of Gaucher disease associated with the D409H mutation and with calcif ic cardiac disease, (Am J Ophthalmol 1998;126:833-835. (C) 1998 by Elsevier Science Inc. All rights reserved.).