Retinal findings in familial hypercholesterolemia: An exploratory case-control study

Area of Science:

• Ophthalmology
• Cardiology
• Genetics

Background:

• Familial hypercholesterolemia (FH) causes high LDL-C from birth, increasing cardiovascular risk via atherosclerosis.
• The impact of elevated LDL-C on smaller arteries, like retinal arterioles, is less understood.
• Retinal arterioles may stiffen and thicken due to high LDL-C.

Purpose of the Study:

• To investigate retinal arteriolosclerosis in FH patients versus controls.
• To explore associations between retinal arteriolosclerosis and lipid levels, demographics, and treatment duration.

Main Methods:

• Compared 50 FH patients (40-70 yrs, normotensive, non-smokers) with 30 controls.
• Excluded participants with diabetes or vascular retinal disease.
• Assessed retinal arteriolosclerosis using Scheie classification on fundus photographs.

Main Results:

• No significant difference in retinal arteriolosclerosis prevalence between FH patients and controls.
• Current lipid levels, age, sex, statin use, or duration of lipid-lowering treatment did not correlate with retinal arteriolosclerosis.

Conclusions:

• FH patients do not exhibit a higher prevalence of retinal arteriolosclerosis compared to individuals without FH.
• Elevated LDL-C in FH may not significantly impact retinal arteriolosclerosis in this cohort.