Lecithin:cholesterol acyltransferase deficiency.
Lecithin:cholesterol acyltransferase (LCAT) deficiency is a rare familial disease inherited in an autosomal recessive pattern. It is characterized by a combination of plasma lipoprotein, corneal, erythrocyte and, in most patients, renal changes. The corneal changes consist of scattered stromal dots that are lipid deposits. Their composition is unique and suggests an intrinsic corneal metabolic defect. The corneal clouding is usually asymptomatic. Patients with the condition must be followed closely because renal failure may develop. We describe a patient with LCAT deficiency.
Bellan
L
L
Department of Ophthalmology, University of British Columbia, Vancouver.
Mikelberg
F
F
Frohlich
J
J
D000328:Adult; D003318:Corneal Opacity / Q000209:etiology* / Q000473:pathology; D003319:Corneal Stroma / Q000473:pathology; D005260:Female; D006801:Humans; D007009:Hypolipoproteinemias / Q000150:complications*; D007863:Lecithin Cholesterol Acyltransferase Deficiency / Q000150:complications*