Lecithin cholesterol acyltransferase deficiency

Lecithin cholesterol acyltransferase deficiency is a disorder of lipoprotein metabolism caused by mutations in the LCAT gene on chromosome 16q22.1, inherited in an autosomal recessive pattern. The enzyme normally helps form cholesterol esters within lipoproteins, and its loss produces two recognized forms. The complete form, familial LCAT deficiency, presents with vision problems from corneal cloudiness, target cell hemolytic anemia, kidney dysfunction, and less commonly atherosclerosis and an enlarged liver and spleen. The partial form, known as fish-eye disease, mainly causes visual impairment from corneal opacity, with other symptoms occurring only rarely. An individual carrying only one copy of the mutated gene typically shows no symptoms, since the disorder requires two affected copies to produce disease.