Retinal Microvascular Changes in Familial Hypercholesterolemia: Analysis with Swept-Source Optical Coherence...

Area of Science:

• Ophthalmology
• Cardiology
• Genetics

Background:

• Familial hypercholesterolemia (FH) is an underdiagnosed genetic disorder impacting cholesterol metabolism and leading to atherosclerotic disease.
• The link between retinal microvascular changes and atheroma in FH patients requires further investigation.

Purpose of the Study:

• To investigate the relationship between retinal microvascular alterations and cardiovascular disease markers in patients with Familial hypercholesterolemia (FH).

Main Methods:

• Cross-sectional study comparing FH patients and healthy volunteers.
• Coronary Artery Calcium (CAC) scoring for cardiovascular assessment.
• Swept-source optical coherence tomography angiography (SS OCT-A) to analyze retinal microvasculature in superficial and deep capillary plexuses.

Main Results:

• A significant association was found between higher CAC scores and reduced vessel density and length in the deep capillary plexus (DCP) of FH patients.
• FH patients exhibited a significantly lower foveal avascular zone circularity index compared to controls.
• Retinal microvascularization is demonstrably altered in individuals with FH.

Conclusions:

• Retinal microvascular changes are present in Familial hypercholesterolemia.
• Retinal vascular density is influenced by the extent of coronary artery calcification in FH patients.
• These findings suggest potential for retinal imaging as a non-invasive marker for cardiovascular risk in FH.