Tremblay M, Dube I, Gagne R
J Fr Ophtalmol. 1979 Mar;2(3):193-7.
Bilateral keratoplasty performed on a 39-year-old patient with Scheie disease gave the opportunity to study the histological, histochemical and ultrastructural lesions of both corneas. The patient showed all the characteristics signs of Scheie disease with bilateral corneal opacities, thick face, synophrys, mitral and aortic valve stenosis, bilateral carpal tunnel syndrome, stiff joints, and was of normal intelligence. 24 hours urines revealed a marked excretion of mucopolysaccharides. Histology showed scarring of the superficial stroma. Histochemistry revealed an accumulation of acid mucopolysaccharides in the keratocytes throughout the stroma. Electron microscopy showed vacuoles or pleomorphic inclusions in the keratocytes compabible with abnormal lysosomes deficient in alpha-L-iduronidase.
对一名患有谢伊病的39岁患者进行的双侧角膜移植手术，为研究双眼角膜的组织学、组织化学和超微结构病变提供了机会。该患者表现出谢伊病的所有典型症状，包括双侧角膜混浊、面部增厚、连眉、二尖瓣和主动脉瓣狭窄、双侧腕管综合征、关节僵硬，且智力正常。24小时尿液检测显示粘多糖排泄显著增加。组织学检查显示浅表基质瘢痕形成。组织化学检查发现整个基质中的角膜细胞内酸性粘多糖积聚。电子显微镜检查显示角膜细胞中有与缺乏α-L-艾杜糖醛酸酶的异常溶酶体相符的空泡或多形性包涵体。
