Thelansis

 Lecithin-cholesterol acyltransferase (LCAT) deficiency is an autosomal recessive disorder characterized by very low high-density lipoprotein (HDL) cholesterol levels but a remarkably variable and often low frequency of cardiovascular disease in carriers. The phenotype is milder than that seen in total LCAT deficiency. The phenotypic differences between LCAT deficiency and fisheye disease have been attributed to whether LCAT gene mutations encode variants that fail to esterify HDL cholesterol and apoB-containing lipoproteins (LCAT deficiency) or HDL only. The clinical characteristics include corneal opacities, splenomegaly, normocytic normochromic anemia, low HDL and α-lipoprotein levels, and elevated LDL levels. The fisheye disease also can exist without anemia, splenomegaly, or renal disease. Likely, the accumulation in plasma of a cholesterol-rich multilamellar particle called lipoprotein-X is pathogenic in the kidneys. Proteinuria, including nephrotic syndrome, progressive renal fa