Twists and Turns: What Retinal Vessel Tortuosity is Trying to Tell Us
December 5, 2025
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1 min read
Abstract
This Grand Rounds presentation reviewed retinal vessel tortuosity and COL4A1-related vasculopathy through an ophthalmology-first lens, emphasizing retinal vascular phenotypes, practical diagnostic reasoning, and the role of functional assays and computational methods
to support variant interpretation. The talk highlighted genotype–phenotype considerations and how multidisciplinary
workflows can accelerate accurate diagnosis and management. This was delivered in conjunction with Dr. Matthew Benson and Dr. Imaan Kherani.
Location
Edmonton, AB, Canada
Invited Ophthalmology Grand Rounds presentation on retinal vessel tortuosity and COL4A1-related disease, focusing on ocular phenotype, diagnostic strategy, and translational validation (functional characterization of a COL4A1 Variant)
Authors
Ehsan Misaghi
(he/him)
Clinician-Scientist Trainee
Ehsan Misaghi is an MD/PhD Candidate at the University of Alberta working at the intersection of ophthalmology, genetics, and artificial intelligence.
His research focuses on inherited retinal disease and genotype–phenotype correlations in ocular disease, with an emphasis on mechanistic insight and translational relevance.
Alongside research, he builds and evaluates practical AI tools for clinical and educational settings, and he leads medical AI education, research, and community-building through the AI in Medical Systems Society (AIMSS) and related initiatives.
His goal is to advance rigorous, clinically useful research and translate it into improved diagnostics, care pathways, and responsible innovation.