COL4A1: Ocular and Systemic Vasculopathy — Genotype–Phenotype Correlation Analysis and Clinical Translation

What problem are we solving?

COL4A1-associated disease spans multisystem vasculopathy with variable penetrance and under-recognized ophthalmic manifestations. Clinicians need clearer phenotype patterns, evaluation guidance, and prognostic framing.

What we are doing

• Synthesizing genotype–phenotype evidence with an ophthalmology-forward lens
• Identifying clinical “red flags” and workup considerations relevant to eye care
• Translational framing for counseling, surveillance, and interdisciplinary management

My role

Lead drafting and synthesis, organization of evidence, and integration with ongoing patient-facing work in the lab/clinic ecosystem.

Current status

Near-complete project with paper writing and final integration underway.

Outputs

• Review / synthesis manuscript
• Clinical-facing tables/figures for phenotype anchoring and management considerations
• Functional study manuscript outlining a novel genetic variant in COL4A1 in a multigenerational family