Lecithin cholesterol acyltransferase deficiency

Symptoms of the familial form include visual impairment caused by diffuse corneal opacities, target cell hemolytic anemia, and kidney failure.

[4] Fish-eye disease is less severe and most commonly presents with impaired vision due to corneal opacification.

[4] Carlson and Philipson found that the disease was named so because the cornea of the eye was so opaque or cloudy with dots of cholesterol that it resembled a boiled fish.

[citation needed] The LCAT glycoprotein produces lysophosphatidylcholine and cholesterol ester and binds to lipoproteins after being secreted by the liver.

[8] Fish-eye disease is characterized by abnormalities like visual impairment, plaques of fatty material, and dense opacification.

[citation needed] Kidney failure is the major cause of morbidity and mortality in complete LCAT deficiency, while in partial deficiency (fish eye disease) major cause of morbidity is visual impairment due to corneal opacity.