Wang T.-J.MUH-SHY CHENShih Y.-F.WUH-LIANG HWULai M.-Y.2020-12-162020-12-1620050002-9394https://www.scopus.com/inward/record.uri?eid=2-s2.0-14244253671&doi=10.1016%2fj.ajo.2004.07.053&partnerID=40&md5=b87176ef585edc293b99b6626145f308https://scholars.lib.ntu.edu.tw/handle/123456789/526024Purpose: 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]SDG3imiglucerase; 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 disorderjournal article10.1016/j.ajo.2004.07.053157340072-s2.0-14244253671