Sodi Andrea, Ioannidis Alex, Pitz Susanne
Department of Ophthalmology, University of Florence, Florence, Italy
Department of Ophthalmology, Royal Free Hospital, London, UK
Ophthalmological manifestations are common in Fabry disease and result from the progressive deposition of glycosphingolipids in various ocular structures. The most specific ocular manifestations of Fabry disease are conjunctival vascular abnormalities, corneal opacities (cornea verticillata), lens opacities and retinal vascular abnormalities. These do not usually cause significant visual impairment or other ocular symptoms, but can nevertheless be important because they can act as markers of the disease, with diagnostic and prognostic implications. Being an external organ and easily investigated with minimally invasive technologies, the eye may be useful for monitoring the natural history of Fabry disease and the response to enzyme replacement therapy. FOS – the Fabry Outcome Survey –provides comprehensive data on the ocular manifestations of Fabry disease. As of March 2005, 173 of the 688 patients enrolled in FOS have undergone a detailed ophthalmological examination. Cornea verticillata was the most frequently reported ophthalmic abnormality in both hemizygous males and heterozygous females, and may represent a useful diagnostic marker. Tortuous vessels and Fabry cataracts were more frequent in males than in females. Vessel tortuosity was associated with a more rapid progression of the disease and may have some value in predicting systemic involvement.
眼部表现常见于法布里病，是由于鞘糖脂在各种眼部结构中进行性沉积所致。法布里病最具特异性的眼部表现为结膜血管异常、角膜混浊（涡状角膜）、晶状体混浊和视网膜血管异常。这些通常不会引起明显的视力损害或其他眼部症状，但仍然很重要，因为它们可作为疾病的标志物，具有诊断和预后意义。眼睛作为一个外部器官，且易于通过微创技术进行检查，可能有助于监测法布里病的自然病程以及对酶替代疗法的反应。法布里病结局调查（FOS）提供了关于法布里病眼部表现的全面数据。截至2005年3月，参与FOS的688例患者中有173例接受了详细的眼科检查。涡状角膜是半合子男性和杂合子女性中最常报告的眼科异常，可能是一个有用的诊断标志物。迂曲血管和法布里白内障在男性中比在女性中更常见。血管迂曲与疾病进展较快相关，可能在预测全身受累方面具有一定价值。
