Dr. Corinna Cozzitorto from University of California awarded $70,000 Knights Templar Eye Foundation grant for Ocular Anterior Segment Dysgenesis (ASD) Research

Dr. Corinna Cozzitorto from the University of California, San Francisco School of Medicine, San Francisco, California was awarded a $70,000 grant for her research titled: Exploring the cellular heterogeneity of the periocular mesenchyme and its derivatives during anterior segment development and disease

Ocular anterior segment dysgenesis (ASD) refers to disorders resulting from defective development of the front of the eye. Individuals with ASD frequently develop glaucoma at young age with subsequent vision loss. The disease characteristics are highly variable and can depend on the causative mutation, highlighting the importance of a genetic diagnosis. The biological mechanisms underlying ASD are still poorly understood, hampering disease prognosis and treatment.

The periocular mesenchyme is mixed population of cells that goes on to form the anterior segment of the eye. Defects in their migration or differentiation can lead to glaucoma and visual impairment. Mutations in FOXC1, PITX2 and, type IV collagens (COL4A1 and COL4A2) affect this cell population and cause ASD and glaucoma.

The research aims to characterize the cellular populations comprising the periocular mesenchyme and how it gives rise to anterior segment structures during normal development and ASD, using Col4a1 mutant mice as disease model. This data will provide new insight into mechanisms contributing to COL4A1-related ASD and could pave the way to understand more general causative mechanisms of ASD.