Quantitative Retinal Vascular Features as Biomarkers for CADASIL: A Case-Control Study from the UK Biobank
Sai Krishna Vallamchetla1, Amro Badr2, Omar Abdelkader1, Md Manjurul Islam Shourav1, Xin Li3, Yalin Wang3, James Meschia1, Oana Dumitrascu4, Michelle Lin1
1Neurology, Mayo Clinic, Florida, 2Cardiovascular, Mayo Clinic Arizona, 3Arizona State University, 4Neurology, Mayo Clinic, Arizona
Objective:
To assess the potential of quantitative retinal vascular features as biomarkers of CADASIL.
Background:
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common inherited cerebral small vessel disease, yet there is currently no biomarker for early detection. Given the anatomical and embryological similarities, the retina has been regarded as a window to cerebral microcirculation. We hypothesized that patients with CADASIL have different quantitative fundoscopic retinal features than matched controls.
Design/Methods:
We conducted a cross-sectional, matched case-control study involving 49 CADASIL cases and 49 age- and sex-matched controls using genetic data from the UK Biobank between 2006 and 2010. Retinal fundoscopic images obtained from the UK Biobank were analyzed using AutoMorph, a deep learning-based tool that measures retinal vascular features, including fractal dimension, tortuosity, and vessel width. Baseline characteristics including age, sex, hypertension, diabetes, smoking status were compared using chi-square or Mann-Whitney-U test appropriately. Wilcoxon signed-rank test or paired-t test was used appropriately to compare these retinal features between cases and controls.
Results:
Our analysis included 49 CADASIL cases (mean age of 52.5 ± 7.9, 49% females) and 49 controls (mean age of 52.8 ± 7.9, 49% females). Vascular risk factors including hypertension, diabetes and smoking status were similar between the two groups (p>0.05). No statistically significant differences were observed between CADASIL cases and controls in fractal dimension (p=0.665), average width (p=0.104) or tortuosity measures like distance tortuosity (p=0.423), squared curvature tortuosity (p=0.925) and tortuosity density (p=0.870).
Conclusions:
Quantitative retinal vascular features analyzed in this study did not significantly differentiate CADASIL cases from controls. This could reflect the potential inclusion of CADASIL patients in the early or asymptomatic stages, where retinal changes may not yet be apparent. Furthermore, healthy volunteer bias in the UK Biobank might have influenced these findings.
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