A Case of Lipemia Retinalis

INTRODUCTION

Lipemia retinalis (LR), first described by Heyl in 1880, is a rare ocular manifestation associated with primary or secondary hyperlipidemia. A salmon-pink to creamy white discoloration of the retinal blood vessels characterizes it. This distinct appearance is caused by light scattering by fat-filled chylomicrons in blood.¹ It may not affect the vision in the initial stages, but may cause a diminution of vision in advanced stages.

LR is classically described as progressing through three stages. In the early stage, only the peripheral retinal vessels exhibit abnormal coloration,² while the central vessels remain unaffected. The intermediate stage is characterized by extension of the creamy discoloration toward the optic disc. In the advanced or severe stage, all retinal blood vessels are diffusely involved. The present report describes a case of severe LR.

CASE REPORT

A 15-year-old female was referred from the General Medicine Department for fundus examination. Patient presented to Medical OPD with chief complaints of fever, abdominal pain for 15 days, & Skin nodules over elbows, knees [Figure 1 and 2], and buttocks for 1 year. Eruptive xanthomas were identified over the forehead, elbows, buttocks, and knees. Comprehensive lipid profile evaluation demonstrated elevated total serum cholesterol, consistent with dyslipidemia, characterized by increased low-density lipoprotein (LDL) and reduced high-density lipoprotein (HDL) cholesterol [Table 1]. The blood sample was visibly turbid, indicating markedLy elevated triglyceride levels [Figure 3]. The patient was initiated on lipid-lowering therapy, including rosuvastatin 20 mg, fenofibrate 54 mg, and daily omega-3 fatty acid supplementation. On Ocular examination, visual acuity in both eyes unaided 6/6. On slit lamp examination, the anterior segments appear normal. Fundus examination shows a normal optic disc with dilated creamy retinal vessels [Figure 4]. On optical coherence tomography [Figure 5] , hyperreflective, engorged retinal vessels and white dots are seen in the inner nuclear and ganglionic cell layers.

Close

Figure 1:

Clinical picture of eruptive xanthomas.

Export to PPT

Close

Figure 2:

Clinical picture of eruptive xanthomas.

Export to PPT

Close

Figure 3:

Blood sample picture.

Export to PPT

Close

Figure 4:

(a) Right eye fundus picture (b) Left eye fundus picture.

Export to PPT

Close

Figure 5:

Optical coherence tomography (Retinal pigment epithelium - RPE, Diabetic nephropathy - DN, Internal limiting membrane and Bruch’s membrane - ILM-BM)

Export to PPT

Close

Figure 6:

(a) Right eye fundus picture after treatment (b) Left eye fundus picture after treatment.

Export to PPT

DISCUSSION

This case report is of LR in a 15-year-old female patient with hyperlipidemia. She was also found to have diabetes based on laboratory investigations.

LR is a rare retinal vascular change seen in the setting of severe hypertriglyceridemia (HTG), in which retinal blood vessels take on a cream-colored to salmon-pink appearance due to high concentrations of triglyceride-rich chylomicrons in the bloodstream.⁵ LR can be observed across all age groups, including children and infants. HTG may develop either as a primary hereditary disorder or secondary to other conditions. Multiple genes have been identified that regulate triglyceride metabolism, and mutations in these genes can lead to the abnormal lipid processing underlying HTG.

When plasma triglycerides exceed 1000 mg/dL, chylomicronemia develops. Plasma triglyceride levels above 2000 mg/dL are always associated with Lipemia Retinolata.

Blood tests revealed elevated triglycerides. Eruptive xanthomas indicate triglyceride levels exceeding 1500 mg/dl, whereas LR occurs when triglyceride levels surpass 2500 mg/dl. Our patient had eruptive xanthomas over the forehead, elbows, and knees, and on the buttocks. Our patient’s triglyceride levels are elevated more than 2000 mg/dL.

Hyperlipidemia can increase blood viscosity, promote atherosclerotic changes in the retinal vasculature, and potentially result in retinal ischemia.⁶

LR reflects a systemic metabolic disturbance with implications far beyond the eye:

• HTG and chylomicronemia syndromes (familial or acquired).⁷

• Secondary causes include diabetes mellitus, protease inhibitor use in HIV, corticosteroid therapy, hypothyroidism, and obesity.

• It can serve as a prodrome to life-threatening complications such as acute pancreatitis and cardiovascular events.

• Other ocular manifestations of hyperlipidemia include xanthelasma, retinal artery and vein occlusions, ischemic optic neuropathy, cataracts, and even dry eye syndrome.⁸

• Less frequently encountered ocular manifestations of showing turbid serum hyperlipidemia include iris xanthomas, retinal xanthomas, lipid keratopathy, and adult-onset Coats’ disease.

CONCLUSION

LR is a rare but characteristic retinal manifestation of severe HTG. Early recognition through fundus examination is crucial, as prompt systemic evaluation and lipid-lowering therapy can lead to complete reversibility of retinal changes and prevent life-threatening metabolic complications. Awareness of this rare entity is essential for ophthalmologists to enable early identification and timely referral for systemic evaluation.