fish eye disease
Definition A rare autosomal dominant disorder (OMIM:136120) of lipoprotein metabolism characterised by partial LCAT–lecithin-cholesterol acyltransferase deficiency, which affect only alpha-LCAT activity, resulting in esterification defects in HDL-high-
Clinical findings Corneal opacities due to cholesterol deposits in the cornea, resulting in a fish-eye appearance*, and an increased risk of atherosclerotic heart disease.
*Similar corneal opacities occur in Tangier disease and in combined apoA-I and apoC-III deficiency
Molecular pathology Defects of LCAT, which encodes lecithin-cholesterol acyltransferase, an enzyme that esterifies extracellular cholesterol—a step required for cholesterol transportation, cause fish-eye disease.
Lab Decreased HDL-cholesterol, increased triglycerides–2.8-4.0 mmol/L, US: 250-350 mg/dL, increased cholesterol–8.7-13.8 mmol/L, US: 340-540 mg/dL
Pathogenesis Defective esterification of free cholesterol into HDL
Synonyms Alpha-lecithin:cholesterol acyltransferase deficiency, α-LCAT deficiency, dyslipoproteinaemic corneal dystrophy, fish-eye disease, LCATA deficiency, lecithin-cholesterol acyltransferase deficiency