Corneal findings in a foetus with Fabry's disease.
The cornea of a 22-week foetus with Fabry's disease was examined biochemically and histopathologically. The alpha-galactosidase activity in the cornea was very low compared with that of the normal control. Histopathologic examination revealed that intracytoplasmic lamellar bodies surrounded by a single membrane were present in the epithelial cells. The lamellar bodies were thought to result from the abnormal accumulation of ceramide trihexoside. We conclude that ceramide trihexoside already has begun to accumulate progressively in the epithelial cells in the mid-trimester of gestation.
D000328:Adult; D000649:Amniocentesis; D001485:Basement Membrane / Q000648:ultrastructure; D002462:Cell Membrane / Q000648:ultrastructure; D002467:Cell Nucleus / Q000648:ultrastructure; D003315:Cornea / Q000196:embryology* / Q000201:enzymology / Q000648:ultrastructure; D000795:Fabry Disease / Q000175:diagnosis / Q000196:embryology* / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D011247:Pregnancy; D000519:alpha-Galactosidase / Q000378:metabolism
D000519:alpha-Galactosidase