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

Gisle Langslet1, Synne Kollstad2, Øystein Kalsnes Jørstad3,4

  • 1Lipid Clinic, Oslo University Hospital, Oslo, Norway.

Atherosclerosis Plus
|June 19, 2026
PubMed

Insights

Patients with familial hypercholesterolemia (FH) do not show increased retinal arteriolosclerosis. This study found no link between FH, high LDL-C, and damage to small arteries in the retina.

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.
Abstract