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Int Med Case Rep J. 2016 Oct 21;9:333-336. doi: 10.2147/IMCRJ.S118594. eCollection 2016.

Exceptionally elevated triglyceride in severe lipemia retinalis.

International medical case reports journal

Han Y Yin, Roberto Warman, Edward H Suh, Anny Ms Cheng

Affiliations

  1. Wayne State University, School of Medicine, Detroit, MI; Department of Ophthalmology, Florida International University, Herbert Wertheim College of Medicine; Ocular Surface Center, Miami.
  2. Department of Ophthalmology, Florida International University, Herbert Wertheim College of Medicine; Division of Pediatric Ophthalmology, Nicklaus Children's Hospital, Miami, FL, USA.
  3. Department of Ophthalmology, Florida International University, Herbert Wertheim College of Medicine.
  4. Department of Ophthalmology, Florida International University, Herbert Wertheim College of Medicine; Ocular Surface Center, Miami.

PMID: 27799830 PMCID: PMC5085280 DOI: 10.2147/IMCRJ.S118594

Abstract

PURPOSE: To report a case of successful treatment for severe lipemia retinalis with extreme severe hypertriglyceridemia (sHTG).

DESIGN: Observational case report.

OBSERVATIONS: A 6-week-old infant with severe lipemia retinalis manifested diffuse creamy retinal vessels complicated with vulvar xanthomas. Extreme sHTG with 185-folds of the normal level was reported. Chromosome microarray and lipid gene sequencing confirmed a homozygous lipoprotein lipase gene coding mutation.

RESULTS: Under strict adherence to a high medium-chain triglycerides formula and discontinuation of breast milk, the lipemia retinalis and vulval lesions resolved along with a stable plasma lipid level throughout the follow-up period of 6 months.

CONCLUSION: Strict adherence to a low-fat diet without breast milk appears to be effective in treating infants with severe lipemia retinalis associated with exceptionally high triglycerides.

Keywords: hypertriglyceride; infant; lipemia retinalis; lipoprotein lipase gene

Conflict of interest statement

The authors report no conflicts of interest in this work.

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