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Deep learning assisted retinal microvasculature assessment and cerebral small vessel disease in Fabry disease
Yingsi Li1, Xuecong Zhou1, Junmeng Li1
1Department of Ophthalmology, Peking University First Hospital, Peking University, Beijing, 100034, China.
Purpose:
The aim of this study was to assess retinal microvascular parameters (RMPs) in Fabry disease (FD) using deep learning, and analyze the correlation with brain lesions related to cerebral small vessel disease (CSVD).
Methods:
In this retrospective case control study, fundus images from 27 FD patients and 27 age- and sex-matched healthy subjects were collected. RMPs, encompassing diameter, density, symmetry, bifurcation, and tortuosity, were quantified. Laboratory examination results, Mainz severity score index (MSSI) scores, and a brain magnetic resonance imaging scan for CSVD scores were extracted and their relationships with RMPs was analyzed.
Results:
Utilizing artificial intelligence-assisted analysis, compared with controls, FD patients exhibited reduced diameter (p = 0.001 for central retinal artery equivalent, p = 0.049 for central retinal vein equivalent), density (p < 0.001 for vessel area density, p = 0.001 for length density), fractal dimension (p < 0.001), and heightened arteriolar and venular asymmetry ratios (p = 0.002 and p = 0.037, respectively), venular curvature tortuosity (p = 0.037), and simple tortuosity (p = 0.037) in retinal microvascular networks. Gender-based differences in RMPs were observed among FD patients. Furthermore, RMPs were significantly associated with disease markers such as plasma globotriaosylsphingosine and α-galactosidase A activity, as well as MSSI scores. Notably, there was a significant negative correlation between the arteriolar asymmetry ratio and CSVD-related scores (age-related white matter changes: r = - 0.683, p = 0.001; Fazekas: r = - 0.673, p = 0.001; Lacuna: r = - 0.453, p = 0.045; small vessel diseases: r = - 0.721, p = 0.012; global cortical atrophy: r = - 0.582, p = 0.009).
Conclusions:
Fabry disease patients demonstrated increased vascular tortuosity and asymmetry, reduced density and diameter, and a simpler fractal dimension in retinal microvasculature. These microvascular characteristics may serve as preliminary indicators for assessing brain lesions and could represent potential novel biomarkers for CSVD, aiding in the monitoring of FD severity and progression.
Insights
Retinal microvascular changes in Fabry disease (FD) patients, identified using deep learning, show increased tortuosity and asymmetry. These findings correlate with brain lesions, suggesting potential biomarkers for monitoring FD and cerebral small vessel disease (CSVD).
Area of Science:
- Ophthalmology
- Neurology
- Medical Imaging
- Artificial Intelligence
Background:
- Fabry disease (FD) is a rare genetic disorder affecting multiple organs, including the cerebrovasculature.
- Cerebral small vessel disease (CSVD) is a common finding in FD patients, contributing to neurological complications.
- Assessing retinal microvascular parameters (RMPs) may offer insights into systemic vascular health and disease progression in FD.
Purpose of the Study:
- To evaluate RMPs in FD patients using deep learning.
- To investigate the correlation between RMPs and brain lesions associated with CSVD.
- To explore the potential of RMPs as biomarkers for FD severity and CSVD.
Main Methods:
- Retrospective case-control study involving 27 FD patients and 27 healthy controls.
- Fundus images analyzed using artificial intelligence to quantify RMPs (diameter, density, symmetry, bifurcation, tortuosity).
- Correlation analysis with laboratory markers, Mainz Severity Score Index (MSSI), and CSVD scores from MRI.
Main Results:
- FD patients showed significantly reduced RMP diameter, density, and fractal dimension compared to controls.
- FD patients exhibited increased arteriolar/venular asymmetry, venular curvature tortuosity, and simple tortuosity.
- RMPs correlated significantly with FD disease markers (plasma Gb3, α-galactosidase A activity, MSSI) and negatively with CSVD scores.
Conclusions:
- Retinal microvasculature in FD is characterized by tortuosity, asymmetry, reduced density, and diameter.
- These RMP alterations may serve as early indicators of brain lesions and potential biomarkers for CSVD.
- RMPs could aid in monitoring FD severity and progression, offering a non-invasive assessment tool.
