American journal of ophthalmology · 2005
Fundus abnormalities in a patient with type I Gaucher's disease with 12-year follow-up.
Клинический случайСтатьяНазвание и аннотация: Перевод пока не подготовлен
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Wang Tsung-Jen, Chen Muh-Shy, Shih Yung-Feng, Hwu Wuh-Liang, Lai Ming-Yang
Аннотация
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.
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.