Retinochoroidal sequelae following resolution of lipemia retinalis in an infant with compound heterozygous LPL...

Lipemia retinalis (LR) is generally considered a benign ocular manifestation of severe hypertriglyceridemia. However, angiographic evidence of retinal pigment epithelium (RPE) injury after biochemical normalization has not been previously documented in infants. We report the case of a full-term 20-day-old girl who presented with hematochezia and severe hypertriglyceridemia. Fundus examination demonstrated stage 3 LR, with creamy vessels, salmon-colored fundus, and grayish optic disks. Genetic testing identified compound heterozygosity in lipoprotein lipase (p.Trp113Arg [paternal]; p.Met328Ile [maternal]). Despite clinical and biochemical improvement after fasting, intravenous fluids, and exchange transfusion, follow-up fundus and fluorescein angiography revealed persistent patchy choroidal filling delay and multiple discrete hyperfluorescent spots, suggestive of focal RPE injury. This report illustrates that LR may be associated with subtle, lasting retinochoroidal sequelae following resolution.