Lecithin cholesterol acyl transferase deficiency. Light and electron microscopic finding from two corneas.
Two brothers with LCAT deficiency are reported. Corneal specimens were studied from both patients by electron and light microscopy. The electron microscopy revealed numerous vacuoles in both Bowman's layer and anterior stroma with some having electron dense material within the vacuoles. Conventional strains including frozen sections for lipid with light microscopy failed to reveal these vacuoles or any pathology. The composition of the contents of the vacuoles remains unsolved.
D000217:Acyltransferases / Q000172:deficiency*; D000328:Adult; D003315:Cornea / Q000473:pathology* / Q000648:ultrastructure; D003316:Corneal Diseases / Q000235:genetics; D003318:Corneal Opacity / Q000378:metabolism / Q000473:pathology*; D004847:Epithelial Cells; D004848:Epithelium / Q000648:ultrastructure; D006801:Humans; D007863:Lecithin Cholesterol Acyltransferase Deficiency; D050356:Lipid Metabolism; D008297:Male; D008854:Microscopy, Electron
D000217:Acyltransferases