Fundoscopic characteristics in three cases of familial hyperchylomicronaemia

Area of Science:

• Ophthalmology
• Medical Genetics
• Cardiovascular Medicine

Background:

• Familial hyperchylomicronaemia is a rare genetic disorder characterized by extremely high levels of triglycerides in the blood.
• Lipaemia retinalis is an ophthalmological condition associated with severe hypertriglyceridemia, where retinal lipids cause a milky appearance of the vessels.

Purpose of the Study:

• To describe the fundoscopic characteristics of patients with familial hyperchylomicronaemia and lipaemia retinalis.
• To highlight the diagnostic utility of retinal vascular tonality in lipaemia retinalis.

Main Methods:

• Case report of three patients diagnosed with familial hyperchylomicronaemia.
• Detailed fundoscopic examination and analysis of retinal vascular appearance in affected individuals.

Main Results:

• The retinal fundus typically presented a pale salmon color, indicative of severe lipaemia retinalis.
• Significant alterations in the vascular tree tonality were observed in all cases.

Conclusions:

• The pale salmon appearance of the retinal fundus is a hallmark of severe lipaemia retinalis.
• Ophthalmological diagnosis of lipaemia retinalis can be significantly aided by assessing the tonality of the retinal vascular tree.