What is the clinical evidence from this study?

Study design: Case Report. Population: Lipemia retinalis and severe hypertriglyceridemia (n=1). Intervention: Specialized medium-chain triglyceride (MCT)-rich formula diet. Primary outcome: Resolution of lipemia retinalis and lipid profile improvement.

What does this research mean for the field?

Transition to a specialized diet resolves lipemia retinalis and improves lipid levels in infants presenting with severe dyslipidemia due to a PCSK9 variant. Novelty: ClaimNovelty.INCREMENTAL. Consensus alignment: ConsensusAlignment.NEUTRAL.

What question did this study set out to answer?

To document the presentation, systemic evaluation, and genetic findings of lipemia retinalis in an infant with severe dyslipidemia and a PCSK9 mutation.

July 11, 2026CureusOpen Access

Lipemia Retinalis in an Infant With a PCSK9 Variant of Familial Hypercholesterolemia: A Case Report

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Key result

MCT-rich formula resolves lipemia retinalis and sharply improves lipids in infant with PCSK9 variant.

Why the study?

Does a specialized MCT-rich formula diet improve lipemia retinalis and lipid profile in an infant with severe hypertriglyceridemia and a PCSK9 variant?

Population

A 36-day-old male infant with lipemia retinalis and a heterozygous PCSK9 mutation

Design

Case report

Follow-up

One-month

Authors

AIAini Zahidah IsmailUniversiti Sains Malaysia CWChi L. WongUniversity of Massachusetts Lowell EMEvelyn Tai Li MinHospital Universiti Sains Malaysia

Discussion

Member takes

Implication

May support MCT formula in rare infantile hyperlipidemia; hypothesis-generating and requires prospective trials before practice change.

Key Points

To document the presentation, systemic evaluation, and genetic findings of lipemia retinalis in an infant with severe dyslipidemia and a PCSK9 mutation.
Clinical, ophthalmologic, and systemic evaluation of a single 36-day-old male infant hospitalized for acute diarrhea who presented with milky-pink blood during venipuncture.
Diagnostic investigations included fundus examination, echocardiography, abdominal ultrasonography, serum lipid profiling, and targeted genetic testing.
Laboratory testing revealed serum cholesterol of 920.2 mg/dL and triglyceride levels of 2,742.2 mg/dL.
Fundus examination revealed bilateral dilated whitish retinal vessels and slightly palish optic discs, while genetic sequencing identified a heterozygous mutation in the PCSK9 gene.
Transitioning the infant to a specialized formula diet led to complete resolution of the ocular signs of lipemia retinalis at the one-month follow-up.

Study Design

Type

Case Report (n=1)

Multicenter

Structured PICO

Does a specialized MCT-rich formula diet improve lipemia retinalis and lipid profile in an infant with severe hypertriglyceridemia and a PCSK9 variant?

Population

A 36-day-old male infant presenting with lipemia retinalis and severe hypertriglyceridemia, found to have a PCSK9 variant, followed for 1 year.

Intervention

Specialized dietary regimen consisting of Portagen (a medium-chain triglyceride-rich formula) supplemented with Carborie carbohydrate powder.

Outcome

Resolution of lipemia retinalis and improvement in lipid profile.surrogate

Lipemia retinalis in an infant with severe hypertriglyceridemia and a PCSK9 variant resolved completely following transition to an MCT-rich formula diet, highlighting the importance of early recognition and dietary management of complex pediatric dyslipidemia.

Limitations

The identified PCSK9 variant does not fully explain the severe hypertriglyceridemia, suggesting an additional underlying disorder like familial chylomicronemia syndrome.
Comprehensive genetic testing targeting triglyceride metabolism pathways was not performed to definitively classify the disorder.

Cite This Study

Ismail et al. (2026) conducted a case report in Lipemia retinalis and severe hypertriglyceridemia (n=1). Specialized medium-chain triglyceride (MCT)-rich formula diet was evaluated on Resolution of lipemia retinalis and lipid profile improvement. Transition to a specialized medium-chain triglyceride-rich formula led to complete resolution of lipemia retinalis and marked improvement in lipid levels in an infant with a PCSK9 variant.

synapsesocial.com/papers/6a51deadc18d7f28ca5004a6 https://doi.org/10.7759/cureus.112310

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Lipemia Retinalis in an Infant With a PCSK9 Variant of Familial Hypercholesterolemia: A Case Report

Discussion

Member takes

Implication

Key Points

Study Design

Structured PICO

Limitations

Cite This Study

Lipemia Retinalis in an Infant With a PCSK9 Variant of Familial Hypercholesterolemia: A Case Report

Discussion

Member takes

Implication

Key Points

Study Design

Structured PICO

Limitations

Cite This Study

Also Consider

Also Consider