Retina | Ehsan Misaghihttps://ehsanmisaghi.com/tags/retina/RetinaHugoBlox Kit (https://hugoblox.com)en-usFri, 05 Dec 2025 00:00:00 +0000https://ehsanmisaghi.com/media/icon.svgRetinahttps://ehsanmisaghi.com/tags/retina/Twists and Turns: What Retinal Vessel Tortuosity is Trying to Tell Ushttps://ehsanmisaghi.com/presentations/2025-col4a1-rounds/Fri, 05 Dec 2025 00:00:00 +0000https://ehsanmisaghi.com/presentations/2025-col4a1-rounds/<p>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)</p>A novel splice variant in COL4A1 results in retinal arterial tortuosity and HANAC syndrome in a multi-generational familyhttps://ehsanmisaghi.com/presentations/2025-grc-col4a1/Tue, 01 Jul 2025 00:00:00 +0000https://ehsanmisaghi.com/presentations/2025-grc-col4a1/A novel splice variant in COL4A1 results in retinal arterial tortuosity and HANAC syndrome in a multi-generational familyhttps://ehsanmisaghi.com/presentations/2025-cos-col4a1/Sun, 01 Jun 2025 00:00:00 +0000https://ehsanmisaghi.com/presentations/2025-cos-col4a1/A novel splice variant in COL4A1 results in retinal arterial tortuosity and HANAC syndrome in a multi-generational familyhttps://ehsanmisaghi.com/presentations/2025-eshg-col4a1/Sat, 24 May 2025 00:00:00 +0000https://ehsanmisaghi.com/presentations/2025-eshg-col4a1/Investigating the Role of PIKFYVE in the Retinal Pigment Epitheliumhttps://ehsanmisaghi.com/presentations/2025-arvo-pikfyve/Tue, 06 May 2025 00:00:00 +0000https://ehsanmisaghi.com/presentations/2025-arvo-pikfyve/<p>Conference abstract presented at ARVO (Salt Lake City, UT, USA).</p>Investigating the Role of PIKFYVE in the Retinal Pigment Epitheliumhttps://ehsanmisaghi.com/presentations/2024-vhrn-pikfyve/Mon, 01 Jul 2024 00:00:00 +0000https://ehsanmisaghi.com/presentations/2024-vhrn-pikfyve/<p>Research presentation delivered at the Vision Health Research Network Summer School.</p>COL4A1: Ocular and Systemic Vasculopathy — Genotype–Phenotype Correlation Analysis and Clinical Translationhttps://ehsanmisaghi.com/projects/col4a1/Mon, 01 Jan 2024 00:00:00 -0700https://ehsanmisaghi.com/projects/col4a1/<h2 id="what-problem-are-we-solving">What problem are we solving?</h2> <p>COL4A1-associated disease spans multisystem vasculopathy with variable penetrance and under-recognized ophthalmic manifestations. Clinicians need clearer phenotype patterns, evaluation guidance, and prognostic framing.</p> <h2 id="what-we-are-doing">What we are doing</h2> <ul> <li>Synthesizing genotype–phenotype evidence with an ophthalmology-forward lens</li> <li>Identifying clinical “red flags” and workup considerations relevant to eye care</li> <li>Translational framing for counseling, surveillance, and interdisciplinary management</li> </ul> <h2 id="my-role">My role</h2> <p>Lead drafting and synthesis, organization of evidence, and integration with ongoing patient-facing work in the lab/clinic ecosystem.</p> <h2 id="current-status">Current status</h2> <p>Near-complete project with paper writing and final integration underway.</p> <h2 id="outputs">Outputs</h2> <ul> <li>Review / synthesis manuscript</li> <li>Clinical-facing tables/figures for phenotype anchoring and management considerations</li> <li>Functional study manuscript outlining a novel genetic variant in COL4A1 in a multigenerational family</li> </ul>