Corneal ultrastructural changes in Fabry's disease.
A case of Fabry's disease is reported. The findings of the corneal alterations with the light microscope as well as with the electron microscope are described. The diffuse corneal haziness seems to be due to small intracellular osmiophilic inclusions of the epithelium. There seems also to be a relation between the giant inclusions in the corneal epithelium, not yet described, and the clinical presence of punctiform grey opacities. The pathogenesis of the whorl-like opacities remains unsolved.
D000328:Adult; D001485:Basement Membrane / Q000648:ultrastructure; D003315:Cornea / Q000648:ultrastructure*; D003593:Cytoplasm / Q000648:ultrastructure; D003886:Descemet Membrane / Q000648:ultrastructure; D004721:Endoplasmic Reticulum / Q000648:ultrastructure; D004727:Endothelium / Q000648:ultrastructure; D004848:Epithelium / Q000648:ultrastructure; D000795:Fabry Disease / Q000648:ultrastructure*; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D008297:Male; D008854:Microscopy, Electron