Corneal opacitie in gaucher dieae

PURPOE: To decribe the corneal finding in a variant of Gaucher dieae. METHOD: Cae report. In an 18-year-old man, ophthalmic and general clinical evaluation, and enzymatic and molecular genetic tudie were performed. REULT: Diffue, well-defined, mall, linear, or dotlike corneal opacitie were oberved throughout the poterior two third of the corneal troma in both eye. The patient had calcific valvular heart dieae. Enzymatic and ultratructural tudie were conitent with Gaucher dieae. Analyi of the glucocerebroidae gene dicloed homozygoity for a D409H mutation. CONCLUION: Corneal opacitie are a ditinguihing ocular feature of the variant of Gaucher dieae aociated with the D409H mutation and with calcific cardiac dieae.