Fish-eye disease is an autosomal recessive disorder caused by specific LCAT mutations that merely alter the alpha-LCAT function. The cardinal clinical symptom is eye apocities that resemble boiled fish (that's why the name). Renal involvment as the glomerulosclerosis in Norum disease is less common.
Biochemically the enzyme LCAT in fish-eye disease is partially impaired. Only the alpha-LCAT function is altered.
Funke H et al. (1991) A molecular defect causing fish eye disease: an amino acid exchange in lecithin-cholesterol acyltransferase (LCAT) leads to the selective loss of alpha-LCAT activity.[^]
Frohlich J et al. (1982) Lecithin: cholesterol acyl transferase (LCAT).[^]
Kastelein JJ et al. (1992) Familial high-density-lipoprotein deficiency causing corneal opacities (fish eye disease) in a family of Dutch descent.[^]
Frohlich J et al. (1987) Hypoalphalipoproteinemia resembling fish eye disease.[^]
Holmquist L et al. (1987) Alpha-lecithin:cholesterol acyltransferase deficiency. Lack of both phospholipase A2 and acyltransferase activities characteristic of high density lipoprotein lecithin:cholesterol acyltransferase in fish eye disease.[^]
Carlson LA et al. (1985) Evidence for deficiency of high density lipoprotein lecithin: cholesterol acyltransferase activity (alpha-LCAT) in fish eye disease.[^]
Carlson LA et al. (1985) Evidence for the presence in human plasma of lecithin: cholesterol acyltransferase activity (beta-LCAT) specifically esterifying free cholesterol of combined pre-beta- and beta-lipoproteins. Studies of fish eye disease patients and control subjects.[^]
Rees A et al. (1984) Restriction enzyme analysis of the apolipoprotein A-I gene in fish eye disease and Tangier disease.[^]
Carlson LA et al. (1982) Fish eye disease: a new familial condition with massive corneal opacities and dyslipoproteinaemia.[^]
Frohlich J et al. (1982) Detection of heterozygotes for familial lecithin: cholesterol acyltransferase (LCAT) deficiency.[^]
Carlson LA et al. () A further case of fish-eye disease.[^]