Ultrastructural changes in the cornea and conjunctiva of a heterozygous woman with Fabry's disease.
Heterozygous females with Fabry's disease show a typical whorled pattern in the corneal epithelium. The patient presented in this paper also had symptoms of polymyositis, necrotizing vasculitis and angiokeratomas. The diagnosis was made from the corneal changes. Electron microscopy revealed intracytoplasmic electron-dense deposits made up of lamellar stacks of uniform periodicity similar to myelin. These were present not only in the corneal epithelium but also in the epithelium, goblet cells, endothelium and mural cells of blood vessels in the conjunctiva. The material in the goblet cells may account for the known presence of ceramide trihexoside in the tears.
D000328:Adult; D003228:Conjunctiva / Q000648:ultrastructure*; D003315:Cornea / Q000648:ultrastructure*; D000795:Fabry Disease / Q000235:genetics / Q000473:pathology*; D005260:Female; D006579:Heterozygote; D006801:Humans; D010375:Pedigree