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.
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| http://dx.doi.org/10.1016/j.ajo.2004.07.053 | DOI Listing |
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