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Article

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

Journal of lipid research - 1 Jan 1996

Contacos C, Sullivan D R, Rye K A, Funke H, Assmann G

Abstract excerpt

We report a new genetic defect in the lecithin:cholesterol acyltransferase (LCAT) gene associated with classical clinical and biochemical features of fish eye disease. The 63-year-old Australian female proband also suffers from non-insulin-dependent (type II) diabetes mellitus. She presented with corneal opacities, markedly reduced HDL-cholesterol (0.1 mmol/L; < 10% of normal controls), and elevated plasma...

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Identifiers

PMID: 8820100

Genes

LCAT

Provenance

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

A new molecular defect in the lecithin: cholesterol acyltransferase (LCAT) gene associated with fish eye disease.PMID 8820100Read ↗

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 ↗

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 ↗

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 ↗

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

A first British case of fish-eye disease presenting at age 75 years: a double heterozygote for defined and new mutations affecting LCAT structure and expression.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 ↗

T13M mutation of lecithin-cholesterol acyltransferase gene causes fish-eye disease.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 ↗

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 ↗

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

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

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