[Corneal changes in Scheie disease. (Mucopolysaccharidosis type I S) (author's transl)].
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.
D000328:Adult; D003315:Cornea / Q000648:ultrastructure*; D003316:Corneal Diseases / Q000209:etiology* / Q000473:pathology / Q000601:surgery; D003318:Corneal Opacity / Q000209:etiology; D016039:Corneal Transplantation; D006025:Glycosaminoglycans / Q000032:analysis; D006801:Humans; D007068:Iduronidase / Q000172:deficiency; D008247:Lysosomes / Q000201:enzymology / Q000648:ultrastructure; D008297:Male; D009083:Mucopolysaccharidoses / Q000150:complications*; D008059:Mucopolysaccharidosis I / Q000150:complications* / Q000175:diagnosis / Q000378:metabolism
D006025:Glycosaminoglycans; D007068:Iduronidase
Altérations de la cornée dans la maladie de Scheie (mucopolysaccharidose type I S), etude ultrastructurale.