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Hypoalphalipoproteinemia resembling fish eye disease
Acta Medica Scandinavica
|January 1, 1987
Summary
This study details a case of a rare genetic disorder resembling fish eye disease, characterized by low high-density lipoprotein cholesterol and lecithin:cholesterol acyltransferase deficiency. The findings highlight a distinct clinical and biochemical profile compared to other hypoalphalipoproteinemias.
Area of Science:
- Biochemistry
- Genetics
- Ophthalmology
Background:
- Familial hypoalphalipoproteinemia encompasses a spectrum of genetic disorders affecting high-density lipoprotein (HDL) metabolism.
- Fish eye disease (FED) is a rare autosomal recessive disorder characterized by near-complete absence of HDL cholesterol and corneal opacities.