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Identification of a novel pathogenic variant in the LPL gene in lipaemia retinalis in an infant
  1. Shilpi Arya and
  2. Sandeep Saxena
  1. Ophthalmology, King George Medical College, Lucknow, Uttar Pradesh, India
  1. Correspondence to Dr Sandeep Saxena; sandeepsaxena2020{at}gmail.com

Abstract

An infant presented to the paediatric emergency department of our tertiary care centre, with failure to thrive and frequent vomiting for the past 2 days. Venous blood samples appeared pale pink. Bedside smartphone-assisted fundus examination revealed a bilateral salmon-coloured retina with creamy vasculature, suggesting lipaemia retinalis. Serum triglyceride levels of 12 100.7 mg/dL were observed. Exome sequencing confirmed the diagnosis. A novel homozygous missense variant p.Cys 291Tyr (c.872G>A) pathogenic variant in exon 6 of the lipoprotein lipase (LPL) gene was discovered. The infant was advised to undergo dietary modification and to follow-up regularly. At 1 year follow-up, the child was thriving on a low-fat diet. However, fundus examination findings persisted.

  • Retina
  • Lipid disorders
  • Metabolic disorders

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Footnotes

  • Contributors The following authors were responsible for drafting of the text, sourcing and editing of clinical images, investigation results, drawing original diagrams and algorithms, and critical revision for important intellectual content: SA and SS. The following author gave final approval of the manuscript: SS. Guarantor: SS.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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