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Corneal opacities in gaucher disease

Authors
Journal
American Journal of Ophthalmology
0002-9394
Publisher
Elsevier
Publication Date
Volume
126
Issue
6
Identifiers
DOI: 10.1016/s0002-9394(98)00249-9
Disciplines
  • Medicine

Abstract

Abstract PURPOSE: To describe the corneal findings in a variant of Gaucher disease. METHODS: Case report. In an 18-year-old man, ophthalmic and general clinical evaluation, and enzymatic and molecular genetics studies were performed. RESULTS: Diffuse, well-defined, small, linear, or dotlike corneal opacities were observed throughout the posterior two thirds of the corneal stroma in 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 variant of Gaucher disease associated with the D409H mutation and with calcific cardiac disease.

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