Symptoms of the familial form include visual impairment caused by diffuse corneal opacities, target cell hemolytic anemia, and kidney failure. Less common symptoms include atherosclerosis, hepatomegaly (enlarged liver), splenomegaly (enlarged spleen), and enlarged lymph nodes. Fish-eye disease is less severe and most commonly presents with impaired vision due to corneal opacification. It rarely presents with other findings, although, atherosclerosis, hepatomegaly, splenomegaly, and lymphadenopathy can occur. Carlson and Philipson found that the disease was named so because the cornea of the eye was so opaque or cloudy with dots of<unk>  that it resembled a boiled fish. If an individual only carries one copy of the mutated gene, they typically do not show symptoms.
Lecithin cholesterol acyltransferase deficiency
Lipoprotein lipase deficiency
2,4 Dienoyl-CoA reductase deficiency
Acyl-CoA oxidase deficiency
Carnitine-acylcarnitine translocase deficiency
Holocarboxylase synthetase deficiency
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency
Mevalonate kinase deficiency