Fundus abnormalities in a patient with type I Gaucher's disease with 12-year follow-up
Journal
American Journal of Ophthalmology
Journal Volume
139
Journal Issue
2
Pages
359-362
Date Issued
2005
Author(s)
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. ? 2005 by Elsevier Inc. All rights reserved.
SDGs
Other Subjects
imiglucerase; adult; article; case report; disease course; eye fundus; female; follow up; Gaucher disease; hepatosplenomegaly; human; ophthalmoscopy; priority journal; retina injury; retina macula degeneration; visual acuity; visual disorder
Publisher
Elsevier Inc.
Type
journal article