fish eye disease

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fish eye disease2016-11-25T20:47:12+00:00

fish eye disease

fish eyes image from New Medical Terms

fish eyes

METABOLISM

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-

fish eye disease image from New Medical Terms

fish eye disease

density lipoproteins.

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

Management Uncertain

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 

References http://www.uniprot.org/uniprot/P04180http://www.omim.org/entry/136120

emedicine.medscape.com/article/122958-

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