Lipemia retinalis in a neonate with Kaufman oculocerebrofacial syndrome: a case of co-occurrence.

We report the case of a term-born infant girl with notable ocular and facial anomalies who was found to have creamy white retinal vessels consistent with lipemia retinalis. Laboratory tests showed severe hypertriglyceridemia and high cholesterol levels. Neuroimaging revealed microphthalmia and optic nerve hypoplasia, and genetic testing identified a homozygous UBE3B mutation, confirming Kaufman oculocerebrofacial syndrome. The infant was treated with a fat-restricted diet and fenofibrate, which led to normal lipid levels and complete fundus recovery within one month. This case represents a clinical co-occurrence of lipemia retinalis and Kaufman oculocerebrofacial syndrome. Direct association cannot be established. Ophthalmic findings may provide an important clue to underlying systemic metabolic abnormalities in neonates.