Observational studyEye (London, England)2025
Inner retinal hyper-reflective foci number correlates with flood-illumination adaptive optics ophthalmoscopy grading and systemic organ involvement in patients with Fabry disease.
Observational study in Eye (London, England), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the 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.
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Who cites it
1 citing paper in PubMed.
- Longitudinal assessment of the retinal phenotype in patients with Fabry disease undergoing continuous enzyme replacement and/or chaperone therapy.Orphanet journal of rare diseases · 2026Observational
Corrections and comments
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Authors and funding
11 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesTo determine the correlation of inner retinal hyper-reflective foci (HRFs) number with Flood-illumination Adaptive Optics Ophthalmoscopy (FIAOO) grading and systemic organ involvement in a cohort of patients with Fabry disease (FD).
methodsObservational and cross-sectional study. Thirty-two eyes of 16 genetically proven FD patients (11 females) were included in the analysis. Data regarding therapeutic regimen and organ involvement (heart, kidney, and brain) of each patient were reviewed. Patients underwent full ophthalmological examination including best-corrected visual acuity, retinography, spectral domain optical coherence tomography and FIAOO imaging grading of retinal vessels. The number of inner-retinal HRFs was determined within the central 2500 μm at the foveal level in each patient and correlation with ocular imaging findings and systemic involvement parameters was assessed through Spearman correlation analysis and Generalized Linear Models (GLM) with a robust Huber White standard error estimation.
resultsInner retinal HRFs number showed a significant association with male gender, use of enzyme replacement therapy and presence of retinal vessel tortuosity (all p < 0.001). Severity of NHYA class and presence of cornea verticillata reached a quasi-significant association (p = 0.089 and p = 0.07, respectively). Increase of FIAOO grading was associated to increased HRFs number (p < 0.001) and increase in estimated glomerular filtration rate was inversely associated with HRFs number (p = 0.04).
conclusionsInner retinal HRF number correlated with organ involvement and ocular imaging findings in FD patients. They may represent a biomarker of disease severity in diagnosed patients and their presence should enhance the suspect of FD in the appropriate clinical setting.
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