Source
Department of Ophthalmology, National Taiwan University Hospital, Taipei, Taiwan.
Abstract
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.