Corneal opacification and lecithin-cholesterol acyltransferase (LCAT) deficiency: a case report.
Bilateral corneal opacities are the first clinical sign of a familial lecithin-cholesterol acyltransferase (LCAT) deficiency and can be found in early childhood. Familial LCAT deficiency includes the following typical clinical findings: corneal opacification, proteinuria, anemia, turbid or milky plasma, very low plasma HDL, very low plasma cholesterol esters and lysolecithin, hyperlipidemia, and very low or absent LCAT enzymatic activity. Several patients have had fundus findings including angioid streaks and papilledema. This disease is autosomal recessive and has been reported in a total of 19 patients previously. Progression of the disease has resulted in premature atherosclerosis, renal failure and transplantation, decreasing visual acuity and corneal transplantation.
D000328:Adult; D003318:Corneal Opacity / Q000150:complications* / Q000503:physiopathology; D006801:Humans; D007009:Hypolipoproteinemias / Q000150:complications*; D007863:Lecithin Cholesterol Acyltransferase Deficiency / Q000150:complications* / Q000503:physiopathology; D008297:Male; D014786:Vision Disorders / Q000503:physiopathology; D014792:Visual Acuity