Ocular Manifestations in Idiopathic Hyperlipaemia and Xanthomatosis

Thomas, Priya; Smith, Edgar B.

doi:10.1136/bjo.42.8.501

Cited by 13 publications

(5 citation statements)

References 5 publications

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“…2 This condition is usually associated with high TG levels>1000 mg/dL. 3 Abnormal deposition of TG produces a salmon-coloured fundus associated with creamish discolouration of retinal arteries and veins in the advanced stages. The disease usually begins in the periphery and progresses towards the centre as the TG levels increase.…”

Section: Descriptionmentioning

confidence: 99%

Course of lipaemia retinalis in acquired generalised lipodystrophy

Markan

Singh

2021

BMJ Case Rep

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Section: Descriptionmentioning

confidence: 99%

Course of lipaemia retinalis in acquired generalised lipodystrophy

Markan

Singh

2021

BMJ Case Rep

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“…Various studies have demonstrated that lipemia retinalis is associated with high TG levels in hyperlipoproteinemias types 1, 3, 4, and 5 with different underlying causes 11. Specifically, the genetic mutation in the primary LPL gene produced the type 1 hyperlipoproteinemia seen in this case.…”

Section: Discussionmentioning

confidence: 73%

Exceptionally elevated triglyceride in severe lipemia retinalis

Yin

Warman

Suh

et al. 2016

IMCRJ

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PurposeTo report a case of successful treatment for severe lipemia retinalis with extreme severe hypertriglyceridemia (sHTG).DesignObservational case report.ObservationsA 6-week-old infant with severe lipemia retinalis manifested diffuse creamy retinal vessels complicated with vulvar xanthomas. Extreme sHTG with 185-folds of the normal level was reported. Chromosome microarray and lipid gene sequencing confirmed a homozygous lipoprotein lipase gene coding mutation.ResultsUnder strict adherence to a high medium-chain triglycerides formula and discontinuation of breast milk, the lipemia retinalis and vulval lesions resolved along with a stable plasma lipid level throughout the follow-up period of 6 months.ConclusionStrict adherence to a low-fat diet without breast milk appears to be effective in treating infants with severe lipemia retinalis associated with exceptionally high triglycerides.

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“…The ocular findings are due to the light scattering from the triglyceride-laden chylomicrons in the plasma. Lipemia retinalis is estimated to be present in 23% of patients with severe hypertriglyceridemia, as a consequence of the accumulation of circulating chylomicrons caused by lipoprotein lipase deficiency (1).…”

Section: Case Reportmentioning

confidence: 99%

“…Lipemia retinalis is a rare presentation of hypertriglyceridemia described as a white and creamy appearance of the retinal arteries and veins, and sometimes the whole fundus (1). Although secondary and genetic factors can elevate triglyceride (TG) levels, metabolic syndrome remains the most common cause of hypertriglyceridemia.…”

Section: Introductionmentioning

confidence: 99%

Lipemia Retinalis in Metabolic Syndrome

Ng,

Seow,

Abdul Aziz

et al. 2023

JUMMEC

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A 19-year-old female with a history of pure gonadal dysgenesis and metabolic syndrome was undergoing regular diabetic eye screening. Recent clinical examination revealed bilateral creamy-white retinal vessels, in keeping with the features of lipemia retinalis (LR). Optical coherence tomography (OCT) images also show hyperreflective deposits accumulated in the dilated retinal vessels with a shadowing effect. Further investigations showed a total serum cholesterol level of 24.2 mmol/L and an unreadable triglyceride level due to a lipemic blood sample. Her medications were increased to T. atorvastatin 40 mg at night and T. ezetimibe 10 mg once daily by her physician. Unfortunately, she developed acute pancreatitis secondary to diabetic ketoacidosis with hypertriglyceridemia 3 months after the diagnosis of LR. LR is a clinical indication of a very high triglyceride level when laboratory testing is not possible. The high comorbidities associated with hypertriglyceridemia and diabetes may warrant close monitoring for cardiovascular disease and life-threatening pancreatitis.

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Ocular Manifestations in Idiopathic Hyperlipaemia and Xanthomatosis

Abstract: THE accumulation of neutral fac in the blood to such an extent as to produce turbidity of the serum is termed hyperlipaemia. This may occur physiologically after a fatty meal, secondarily to diabetes mellitus, the nephrotic syndrome and glycogen storage disease, or idiopathically.

Cited by 13 publications

References 5 publications

Course of lipaemia retinalis in acquired generalised lipodystrophy

Course of lipaemia retinalis in acquired generalised lipodystrophy

Exceptionally elevated triglyceride in severe lipemia retinalis

Lipemia Retinalis in Metabolic Syndrome

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