法布里病：眼部表现。

Fabry disease: ocular manifestations.

作者信息

Franceschetti A T

出版信息

Birth Defects Orig Artic Ser. 1976;12(3):195-208.

Abstract

Fabry disease involves the different eye structures with variable frequencies. Typical alterations are the vascular lesions of the conjunctiva, the whirl-like opacities of the cornea, the wedge-shaped anterior opacities and the branching spokes of the lens, as well as the vascular lesions of the retina. Histopathologic examination correlates well with the observed symptoms. Several drugs may induce whirl-like opacities. The importance of the slit-lamp examination in Fabry disease has been further stressed by the discovery of angiokeratoma corporis diffusum in fucosidosis.

摘要

法布里病以不同频率累及不同眼部结构。典型病变包括结膜血管病变、角膜涡状混浊、晶状体楔形前混浊和分支状条纹，以及视网膜血管病变。组织病理学检查与观察到的症状密切相关。几种药物可能诱发涡状混浊。岩藻糖苷贮积症中弥漫性躯体血管角质瘤的发现进一步强调了裂隙灯检查在法布里病中的重要性。