Wang Tsung-Jen, Chen Muh-Shy, Shih Yung-Feng, Hwu Wuh-Liang, Lai Ming-Yang
Department of Ophthalmology, National Taiwan University Hospital, Taipei, Taiwan.
Am J Ophthalmol. 2005 Feb;139(2):359-62. doi: 10.1016/j.ajo.2004.07.053.
To report a case of type I Gaucher's disease with rare presentation of fundus abnormalities in long-term observation.
Observational case report.
This 53-year-old Taiwanese woman suffered from type I Gaucher's disease for 12 years, with initial presentation of hepatoslpenomegaly in 1992.
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.
Fundus changes associated with Gaucher's disease are uncommon. We should not neglect the possibility of retinal involvement and progression in these patients.
报告1例Ⅰ型戈谢病，在长期观察中出现罕见的眼底异常表现。
观察性病例报告。
这位53岁的台湾女性患Ⅰ型戈谢病12年，1992年最初表现为肝脾肿大。
当时还注意到视力差，伴有异常的黄斑改变和周边视网膜血管渗漏。她在初诊时接受了全面的眼科检查，并于2003年，即12年后再次接受检查。在过去4年中，她接受了伊米苷酶注射治疗。然而，她双眼的视力均为10/200。12年后，黄斑和周边视网膜的退行性改变有所进展。
与戈谢病相关的眼底改变并不常见。我们不应忽视这些患者视网膜受累及进展的可能性。
