Wilson's disease. Electron microscopic, x-ray energy spectroscopic, and atomic absorption spectroscopic studies of corneal copper deposition and distribution.
The eyes from three patients with Wilson's disease and bilateral circumferential Kayser-Fleischer rings were obtained at autopsy. The cornea from one eye of each of the patients was divided into five anatomic regions--superior, inferior, medial, lateral, and central--and each area was examined by x-ray energy spectroscopy interfaced with transmission electron microscopy and by atomic absorption spectrophotometry. The cornea of the second eye was examined by light microscopy. Electron-dense granules, rich in copper and sulfur, were present in both the peripheral and the central region of the cornea but were more numerous at the periphery. The total copper concentration, determined by atomic absorption spectrophotometry, was high in both the peripheral and the central area of the cornea. The association of copper with sulfur suggests that a sulfur-containing  moiety functions in binding copper. The distribution of the copper granules correlates with the clinical appearance of the Kayser-Fleischer ring, but no correlation exists between the total copper content and the Kayser-Fleischer ring. This suggests that sulfur-copper binding results in aggregation of copper granules and production of the first clinically detectable corneal lesion in Wilson's disease.
D000293:Adolescent; D000328:Adult; D003300:Copper / Q000378:metabolism*; D003315:Cornea / Q000032:analysis / Q000648:ultrastructure*; D006527:Hepatolenticular Degeneration / Q000473:pathology*; D006801:Humans; D008854:Microscopy, Electron; D013054:Spectrophotometry, Atomic; D013057:Spectrum Analysis; D014018:Tissue Distribution; D014965:X-Rays
D003300:Copper