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

doi:10.1016/j.jaapos.2026.104887

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Article

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

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus - 1 Aug 2026

Abdul Khadar Syed Mohideen, Pradhan Swanand, Rajendran Sivaranjani

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42320594
DOI: 10.1016/j.jaapos.2026.104887

Genes

UBE3B

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.