ArticleNPJ genomic medicine2026
Endothelial dysfunction in Fabry disease: retinal biomarkers link cardiac GLA gene variants with chronic inflammation.
Article in NPJ genomic medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06758648 (Characterizing the Retinal Microvasculature in Patients with Fabry Disease), which is not on this map. Cited by 1 paper.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Characterizing the Retinal Microvasculature in Patients with Fabry Disease: a Prospective Observational Study
Who cites it
1 citing paper in PubMed.
- VCAM-1 as a biomarker of early cardiac phenotypic changes in Fabry disease.BMC cardiovascular disorders · 2026Article
Corrections and comments
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Authors and funding
16 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by variants in the alpha-galactosidase A gene (GLA). Cardiac complications are a major cause of mortality, but the large number of variants complicate early identification of at-risk patients. In this study, we assessed the microcirculation using Retinal Vessel Analysis (RVA) in 63 FD patients age- and gender-matched to 60 healthy controls, analyzing associations between RVA parameters, cardiac involvement, and GLA variants. FD patients showed reduced venular flicker-induced dilation, narrower retinal arterioles, and a lower arteriolar-to-venular ratio. Impaired retinal microcirculation was associated with cardiac involvement, and patients with cardiac-associated GLA variants exhibited narrower retinal arterioles. Markers of inflammation and endothelial dysfunction (ED) were significantly higher in FD patients. Higher inflammatory levels correlated with altered retinal microcirculation in patients carrying cardiac-associated GLA variants. RVA detects microvascular ED in FD patients and may serve as a non-invasive biomarker for cardiovascular risk stratification. Registration: https://clinicaltrials.gov/study/NCT06758648 ; Unique identifier: NCT06758648.
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Registered trials
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