Fundus abnormalities in a patient with type I Gaucher's disease with 12-year follow-up

PURPOSE: To report a case of type I Gaucher's disease with rare presentation of fundus abnormalities in long, term observation. DESIGN: Observational case report. METHODS: This 53-year-old Taiwanese woman suffered from type I Gaucher's disease for 12 years, with initial presentation of hepatoslpenomegaly in 1992. RESULTS: At that time, poor vision with unusual macular change and peripheral retinal vessel leakage was also noted. She received a complete ophthalmic examination at the initial visit and again 12 years later in 2003. She was treated with imiglucerase injection during the last 4 years. However, her visual acuity was 10/200 in both eyes. The macular and peripheral retinal degenerative change progressed after 12 years. CONCLUSIONS: Fundus changes associated with Gaucher's disease are uncommon. We should not neglect the possibility of retinal involvement and progression in these patients.