Fiore B, Klopfer M, Schwebig C, Wiescher A, Lanzl I
Augenklinik der Technischen Universität München, München, Deutschland.
Ophthalmologe. 2009 Jun;106(6):544-6. doi: 10.1007/s00347-008-1697-z.
Fabry's disease (FD) is a rare lysosomal storage disorder. Early cerebral manifestations are a major and often life-threatening burden of the disease. We present a 38-year-old male FD patient with a prior history of six different episodes of stroke and newly developing ocular disorders. He presented with nystagmus with different wave forms and directions and blepharospasm as well as cornea verticillata.
法布里病（FD）是一种罕见的溶酶体贮积症。早期脑部表现是该疾病的主要负担，且常常危及生命。我们报告一名38岁的男性FD患者，既往有6次不同的中风发作史，且新出现了眼部疾病。他表现出不同波形和方向的眼球震颤、眼睑痉挛以及角膜涡状浑浊。
