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

A. F. Winder*, J. S. Owen, P. H. Pritchard, D. Lloyd-Jones, D. T. Vallance, P. White, R. Wray

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

11 Scopus citations

Abstract

Fish-eye disease is a familial syndrome with corneal opacification, major high density lipoprotein (HDL) deficiency in plasma, significant cholesterol esterification in plasma on non-HDL lipoproteins, generally without premature coronary disease. This first British male case from unrelated British parents had infarcts when aged 49 and 73 years but was asymptomatic at age 81 years, with plasma cholesterol 4.3-7.1 mmol/litre, triglycerides 1.8-2.2 mmol/litre, HDL cholesterol < 0.1 mmol/litre, apolipoprotein A-I < 0.16 g/litre, lipoprotein(a) 0.61 g/litre. Cholesterol esterification was impaired using HDL-3 and A-I proteoliposomes but not using VLDL/IDL/LDL. The findings are those of LCAT deficiency with the classic fish-eye disease defect. Most of the 22 reported cases were homozygous or heterozygous for a Thr-Ile mutation at codon 123 of the lecithin:cholesterol acyltransferase (LCAT) gene. This patient was a double heterozygote for this mutation and a second new incompletely defined mutation affecting LCAT expression as defined by reduced mass and activity in plasma.

Original languageEnglish (US)
Pages (from-to)228-230
Number of pages3
JournalJournal of Clinical Pathology
Volume52
Issue number3
DOIs
StatePublished - 1999
Externally publishedYes

Keywords

  • Corneal opacification
  • Familial LCAT deficiency
  • Fish-eye disease
  • LCAT gene mutation

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

Fingerprint

Dive into the research topics of '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'. Together they form a unique fingerprint.

Cite this