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Article

Two novel molecular defects in the LCAT gene are associated with fish eye disease.

Arteriosclerosis, thrombosis, and vascular biology - 1 Feb 1996

Kuivenhoven J A, Stalenhoef A F, Hill J S, Demacker P N, Errami A, Kastelein J J, Pritchard P H

Abstract excerpt

A 53-year-old man with a severely reduced HDL cholesterol level, dense corneal opacities, normal renal function, and premature coronary artery disease was investigated together with 16 members of his family. The proband was diagnosed with fish eye disease. As in previously reported patients with fish eye disease, the endogenous plasma cholesterol esterification rate was near normal, yet lecithin:cholesterol...

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Source

Identifiers

PMID: 8620346
DOI: 10.1161/01.atv.16.2.294

Genes

LCAT

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Two novel molecular defects in the LCAT gene are associated with fish eye disease.PMID 8620346Read ↗

The molecular pathology of lecithin:cholesterol acyltransferase (LCAT) deficiency syndromes.Semantic proximity Read ↗

A unique genetic and biochemical presentation of fish-eye disease.Semantic proximity Read ↗

Compound heterozygosity (G71R/R140H) in the lecithin:cholesterol acyltransferase (LCAT) gene results in an intermediate phenotype between LCAT-deficiency and fish-eye disease.Semantic proximity Read ↗

A new molecular defect in the lecithin: cholesterol acyltransferase (LCAT) gene associated with fish eye disease.Semantic proximity Read ↗

Novel pathogenic variant in the LCAT gene in a compound heterozygous patient with fish-eye disease and a mild phenotype.Semantic proximity Read ↗

Two different allelic mutations in the lecithin:cholesterol acyltransferase (LCAT) gene resulting in classic LCAT deficiency: LCAT (tyr83-->stop) and LCAT (tyr156-->asn).Semantic proximity Read ↗

Fish eye syndrome: a molecular defect in the lecithin-cholesterol acyltransferase (LCAT) gene associated with normal alpha-LCAT-specific activity. Implications for classification and prognosis.Semantic proximity Read ↗

Lecithin: cholesterol acyltransferase deficiency and fish-eye diseaseSemantic proximity Read ↗

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.Semantic proximity Read ↗

High prevalence of mutations in LCAT in patients with low HDL cholesterol levels in The Netherlands: identification and characterization of eight novel mutations.Semantic proximity Read ↗

Two different allelic mutations in the lecithin-cholesterol acyltransferase gene associated with the fish eye syndrome. Lecithin-cholesterol acyltransferase (Thr123----Ile) and lecithin-cholesterol acyltransferase (Thr347----Met).Semantic proximity Read ↗

Molecular analysis of a novel LCAT mutation (Gly179 → Arg) found in a patient with complete LCAT deficiency.Semantic proximity Read ↗

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