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Endothelial dysfunction in Fabry disease: retinal biomarkers link cardiac GLA gene variants with chronic inflammation

Timon Wallraven1, Claudia Regenbogen1, Roman Günthner1

  • 1TUM School of Medicine and Health, Department of Nephrology, TUM University Hospital, Technical University of Munich, Munich, Germany.

NPJ Genomic Medicine
|January 16, 2026
PubMed

Insights

Retinal Vessel Analysis (RVA) can detect microvascular endothelial dysfunction in Fabry disease (FD) patients. This non-invasive method may help identify individuals at risk for cardiac complications, aiding in cardiovascular risk stratification.

Area of Science:

  • Ophthalmology
  • Genetics
  • Cardiology

Background:

  • Fabry disease (FD) is an X-linked lysosomal storage disorder stemming from alpha-galactosidase A gene (GLA) variants.
  • Cardiac complications are a primary cause of mortality in FD, yet identifying at-risk patients is challenging due to numerous GLA variants.

Purpose of the Study:

  • To assess microcirculation in FD patients using Retinal Vessel Analysis (RVA).
  • To investigate associations between RVA parameters, cardiac involvement, and specific GLA variants.
  • To evaluate RVA as a non-invasive biomarker for cardiovascular risk stratification in FD.

Main Methods:

  • Retinal Vessel Analysis (RVA) was performed on 63 FD patients and 60 age- and gender-matched healthy controls.
  • Parameters analyzed included venular dilation, arteriolar caliber, and arteriolar-to-venular ratio.
  • Associations between RVA findings, cardiac status, GLA variants, inflammation, and endothelial dysfunction (ED) were examined.

Main Results:

  • FD patients exhibited reduced venular flicker-induced dilation, narrower retinal arterioles, and a lower arteriolar-to-venular ratio compared to controls.
  • Impaired retinal microcirculation correlated with cardiac involvement and was more pronounced in patients with cardiac-associated GLA variants.
  • FD patients showed elevated markers of inflammation and endothelial dysfunction, which correlated with altered retinal microcirculation.

Conclusions:

  • Retinal Vessel Analysis (RVA) effectively detects microvascular endothelial dysfunction in Fabry disease.
  • RVA parameters are associated with cardiac involvement and specific GLA variants in FD patients.
  • RVA shows promise as a non-invasive tool for cardiovascular risk stratification in Fabry disease.

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