A 60 Days old male child born at 34weeks of gestational age, with birth weight of 2.25kg referred as a case of hyperlipidemia for fundus evaluation. First child born of third degree consanguinous marriage was admitted with complaints of loose stools. On drawing blood sample, it was pinkish and on standing milky serum separated. Total cholesterol was 1541mg/dl and Serum triglycerides was very high. USG Abdomen was normal. Parents lipid profile was within normal limits. H/O Familial hyperchylomicronemia (type 1 hyperlipidemia) present for his cousin diagnosed at 15 days of life. Fundus examination of both eyes showed pale retinal blood vessels present in all 4 quadrants. Genetic analysis showed a Homozygous pathogenic variant in GPIHBP1 Gene which is consistent with Autosomal Recessive Hyperlipoproteinemia. Child was started on No Fat Diet (Skimmed Milk Powder) and on follow up. We report this case for the rare presentation of LIPEMIA RETINALIS in a preterm infant.
Leave a Comment