Lecithin:cholesterol acyl transferase deficiency presenting as visual impairment, with hypocholesterolaemia and normal renal function.
D000328:Adult; D002784:Cholesterol / Q000097:blood*; D003318:Corneal Opacity / Q000097:blood / Q000201:enzymology; D006801:Humans; D007009:Hypolipoproteinemias / Q000097:blood*; D007668:Kidney / Q000503:physiopathology*; D007677:Kidney Function Tests; D007863:Lecithin Cholesterol Acyltransferase Deficiency / Q000097:blood* / Q000503:physiopathology; D008055:Lipids / Q000097:blood; D008074:Lipoproteins / Q000097:blood; D008297:Male; D014786:Vision Disorders / Q000097:blood / Q000201:enzymology*
D008055:Lipids; D008074:Lipoproteins; D002784:Cholesterol