Abstract Details

Title Quantitative Retinal Vascular Features as Biomarkers for CADASIL: A Case-Control Study from the UK Biobank

Topic Cerebrovascular Disease and Interventional Neurology

Presentation(s) P9 - Poster Session 9 (11:45 AM-12:45 PM)

Poster/Presentation
Number 13-003

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.

Authors/Disclosures
Sai Krishna Vallamchetla, MBBS (Mayo Clinic, Florida) PRESENTER	Mr. Vallamchetla has nothing to disclose.
amro badr, MD	Dr. badr has nothing to disclose.
Omar Abdelkader, MD (Westchester Medical Center)	Dr. Abdelkader has nothing to disclose.
Md Manjurul Islam Shourav, MBBS	Mr. Shourav has nothing to disclose.
Xin Li (Arizona State University)	Xin Li has received personal compensation for serving as an employee of Arizona State University.
Yalin Wang (Arizona State University)	Yalin Wang has nothing to disclose.
James F. Meschia, MD, FAAN (Mayo Clinic)	The institution of Dr. Meschia has received research support from NINDS. The institution of Dr. Meschia has received research support from NINDS.
Oana M. Dumitrascu, MD, FAAN (Mayo Clinic)	Dr. Dumitrascu has nothing to disclose.
Michelle P. Lin, CRC (Mayo Clinic Florida)	Dr. Lin has nothing to disclose.

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