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.