ArticleCureus2026
Lipemia Retinalis in an Infant With a PCSK9 Variant of Familial Hypercholesterolemia: A Case Report.
Article in Cureus, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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3 authors.
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Abstract
Lipemia retinalis is a rare ophthalmic condition characterized by a milky-white appearance of the retinal vessels caused by markedly elevated blood triglyceride levels. This condition serves as an important clinical indicator of severe hyperlipidemia, particularly hypertriglyceridemia, and may signify an underlying metabolic disorder. Its ocular manifestations can serve as an early warning sign for clinicians, prompting further evaluation of the patient's lipid profile and potential underlying systemic conditions. We present a rare case of a 36-day-old male infant who was hospitalized for acute diarrhea following the initiation of formula feeding and was noted to have a milky-pink discoloration of the blood during venipuncture. An ophthalmology consultation was obtained, and fundus examination revealed bilateral dilated whitish retinal vessels and slightly palish optic discs. The anterior segments were otherwise normal, with no evidence of cataracts. Laboratory investigations demonstrated markedly elevated cholesterol (920.2 mg/dL) and triglyceride (2,742.2 mg/dL) levels, while systemic examination findings were unremarkable. No abnormalities were identified on echocardiography or abdominal ultrasonography. Genetic testing revealed a heterozygous mutation in the
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