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We present a rare case of lipemia retinalis secondary to familial lipase deficiency.
Lipemia retinalis is an asymptomatic condition usually not affecting visual acuity. It is most commonly seen in familial hyperchylomicronemia. Rarely can also be due to secondary hyperlipidemia following diabetes or acquired hypercholesterolemia. It usually presents when the triglyceride (TG) levels exceed 2500 mg/dl.
A 1-month-old female child referred from a private hospital as a diagnosed case of metabolic syndrome for ophthalmic evaluation. There was a history of umbilical discharge on day 27 after birth and her total serum cholesterol was 7000 mg/dl and serum TGs were 8530 mg/dl. Child was born to parents with second-degree consanguineous marriage.
On ocular examination, anterior segment of both eyes was within normal limits. Posterior segment revealed small yellowish optic discs, salmon pink retina, and dilated tortuous milky white retinal blood vessels [Figure 1]. She was diagnosed to have lipemia retinalis secondary to familial lipoprotein lipase (LPL) deficiency. Child was switched to low-fat skimmed milk and advised to come after 1 month. However, she passed away secondary to systemic complications.
Ocular features associated with hypertriglyceridemia are corneal arcus, corneal opacification, lipemic aqueous, and xanthelasma. Lipemia retinalis usually does not affect vision, but there have been reports of reduced electroretinography waves. However, there have been reports of branch retinal occlusions in adults.
LPL is the rate-limiting enzyme for hydrolysis of TGs in chylomicrons and very low-density lipoproteins. For full enzymatic activity, the presence of apolipoprotein CII is required as a cofactor. The LPL gene is located on chromosome 8p22 and as a result of mutations in this gene, the enzyme is either not produced or becomes catalytically inactive. Patients have increased risk of pancreatitis and they present with hepatosplenomegaly, lipemia retinalis, and eruptive xanthomas. Recurrent pancreatitis ultimately causes pancreatic insufficiency, which is the major threat. Lipid-lowering drugs are not very effective. Increased risk of coronary artery disease is seen in heterozygous carriers as they have decreased high-density lipoproteins. Mainstay of treatment is lifestyle modification which includes strict adherence to fat restriction for life and regular exercise. To decrease risk of pancreatitis, the aim is to maintain TG values <2000 mg/dL.
There are no conflicts of interest.