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Related Experiment Video

Updated: Mar 12, 2026

Assessing Whole-Body Lipid-Handling Capacity in Mice
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Exceptionally elevated triglyceride in severe lipemia retinalis.

Han Y Yin1, Roberto Warman2, Edward H Suh3

  • 1Wayne State University, School of Medicine, Detroit, MI; Department of Ophthalmology, Florida International University, Herbert Wertheim College of Medicine; Ocular Surface Center, Miami.

International Medical Case Reports Journal
|November 2, 2016
PubMed
Summary

A specialized diet effectively treated severe lipemia retinalis in an infant with extreme hypertriglyceridemia. Discontinuing breast milk and using a medium-chain triglyceride formula resolved retinal and skin lesions.

Keywords:
hypertriglycerideinfantlipemia retinalislipoprotein lipase gene

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Area of Science:

  • Ophthalmology
  • Genetics
  • Pediatrics

Background:

  • Severe lipemia retinalis is a rare condition associated with extreme hypertriglyceridemia (sHTG).
  • Lipoprotein lipase gene mutations are a common cause of sHTG in infants.

Observation:

  • A 6-week-old infant presented with severe lipemia retinalis and vulvar xanthomas.
  • The infant had 185-fold elevated triglyceride levels.
  • Genetic testing revealed a homozygous lipoprotein lipase gene mutation.

Findings:

  • Treatment involved a strict high medium-chain triglyceride formula and discontinuation of breast milk.
  • Lipemia retinalis and vulvar xanthomas resolved within 6 months.
  • Plasma lipid levels remained stable post-treatment.

Implications:

  • A low-fat diet, excluding breast milk, can be an effective treatment for severe lipemia retinalis in infants.
  • Early diagnosis and dietary intervention are crucial for managing sHTG and its complications.
  • This case highlights the importance of genetic testing in identifying the cause of sHTG.