Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002986 (Fabry)
 5,646 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case of epithelial corneal degeneration that was first seen as a pigmented plaque but changed to a whrol-like pattern and then partially regressed is described. The pathologic abnormality was an intra-cellular inclusion of lipid in the basal cells and of lipid and mucopolysaccharide in the wing and superficial cells. No duplication of basement membrane or thickening of Bowman's layer was present. It is suggested that despite different origins the pathologic entity in this case, in Fabry's disease and in chloroquine keratopathy is similar. The whorled pattern is due to a sliding of the corneal epithelial cells as they rise from the basal cells to the surface, much as a cyclonic flow forms about an atmospheric low in the southern hemisphere.
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PMID:Whorl-like degeneration of corneal epithelium a clinico-pathologic study. 14 16