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

Tsung Jen Wang, Muh Shy Chen, Yung Feng Shih, Wuh Liang Hwu, Ming Yang Lai

Research output: Contribution to journalArticlepeer-review

13 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)359-362
Number of pages4
JournalAmerican Journal of Ophthalmology
Issue number2
Publication statusPublished - Feb 2005
Externally publishedYes

ASJC Scopus subject areas

  • Ophthalmology


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