A clinical and histopathological study of François-Neetens speckled corneal dystrophy.
A 57-year-old black man had François-Neetens speckled dystrophy of the cornea and orbital phycomycosis. Examination of family members confirmed an auto-somal-dominant pattern of inheritance. Light and electron microscopic study of the cornea of a blind eye disclosed that the corneal opacities were represented by swollen, vacuolated keratocytes filled with histochemically demonstrable acid mucopolysaccharide and complex lipids. Thus, this dystrophy may represent a dominantly inherited metabolic disorder confined to the cornea.
D000293:Adolescent; D000328:Adult; D000368:Aged; D003315:Cornea / Q000473:pathology; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D003318:Corneal Opacity / Q000209:etiology; D004847:Epithelial Cells; D004848:Epithelium / Q000473:pathology / Q000648:ultrastructure; D005260:Female; D005799:Genes, Dominant; D006025:Glycosaminoglycans / Q000032:analysis; D006651:Histocytochemistry; D006801:Humans; D008055:Lipids / Q000032:analysis; D008297:Male; D008875:Middle Aged; D009083:Mucopolysaccharidoses / Q000150:complications; D010375:Pedigree
D006025:Glycosaminoglycans; D008055:Lipids