Treatment with a fat-restricted diet and fenofibrate led to normal lipid levels and complete fundus recovery within one month in a neonate with lipemia retinalis and Kaufman syndrome.
Case Report (n=1)
Does a fat-restricted diet and fenofibrate improve lipid levels and fundus appearance in a neonate with Kaufman oculocerebrofacial syndrome and lipemia retinalis?
Ophthalmic findings such as lipemia retinalis can provide important clues to underlying systemic metabolic abnormalities in neonates, which can be successfully managed with diet and lipid-lowering therapy.
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.
Khadar et al. (Mon,) conducted a case report in Lipemia retinalis and Kaufman oculocerebrofacial syndrome (n=1). Fat-restricted diet and fenofibrate was evaluated on Lipid levels and fundus recovery. Treatment with a fat-restricted diet and fenofibrate led to normal lipid levels and complete fundus recovery within one month in a neonate with lipemia retinalis and Kaufman syndrome.