COL4A1

Twists and Turns: What Retinal Vessel Tortuosity is Trying to Tell Us

Invited Grand Rounds talk on COL4A1-related vasculopathy with emphasis on ocular findings, diagnostic strategy, translational validation, and functional characterization of …

A novel splice variant in COL4A1 results in retinal arterial tortuosity and HANAC syndrome in a multi-generational family

Abstract on our ophthalmology-led diagnosis and study of COL4A1 vasculopathy enabled by functional assays and computational methods

ehsan-misaghi