Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
June 19, 2026 · via Europe PMC
Lipemia retinalis in a neonate with Kaufman oculocerebrofacial syndrome: a case of co-occurrence.
Abdul Khadar SM, Pradhan S, Rajendran S.
AI summary — for doctors, generated from the abstract only
A newborn with Kaufman oculocerebrofacial syndrome had lipemia retinalis that fully resolved within a month of diet and fenofibrate treatment.
What was studied
A case report of a term infant with ocular and facial anomalies, lipemia retinalis, and severe hypertriglyceridemia, with a homozygous UBE3B mutation confirming Kaufman oculocerebrofacial syndrome.
Key findings
- Fundus showed creamy white retinal vessels consistent with lipemia retinalis
- Labs showed severe hypertriglyceridemia and high cholesterol
- Imaging revealed microphthalmia and optic nerve hypoplasia
- Fat-restricted diet and fenofibrate normalized lipids, with complete fundus recovery within one month
- The authors state a direct association between the two conditions cannot be established
Clinical relevance
Illustrates that retinal findings in neonates can point to underlying metabolic abnormalities. Case reports describe individual experiences and cannot establish how often this occurs or how well a treatment works in general.
Who should care
Limitations
Single case report; a causal link between the syndrome and lipemia retinalis cannot be established.
Fundus findings in a newborn led to recognition of a serious lipid abnormality that responded to treatment.
This is an AI-generated summary of the published abstract, not a clinical recommendation. It may not reflect the full text or subsequent updates — verify against the original source before acting on it.
Abstract
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.
DOI
10.1016/j.jaapos.2026.104887
PMID
42320594
Research metadata (titles, abstracts, authors, publication dates) is sourced from Europe PMC, which aggregates content from PubMed/MEDLINE, PubMed Central, and other providers under the U.S. National Library of Medicine (NLM/NCBI). NLM does not claim copyright on abstracts; the original journal publishers or authors may hold rights to the full articles. AI-generated summaries are derived only from the abstract, never the full text, and are always labeled as AI-generated.
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