Dr. Marta Grannonico from University of Virginia Awarded $90,000 Knights Templar Eye Foundation Grant for Aniridia Research

Dr. Marta Grannonico from the University of Virginia School of Medicine, Charlottesville, Virginia was awarded a $90,000 grant entitled: Establishing In Vivo Biomarkers for Retinal Developmental Damage in Aniridia.

Aniridia is a developmental eye disorder which occurs in 1 in 75,000 newborns with no gender predilection. Although a complete or partial absence of the iris is the most obvious clinical feature of aniridia, visual defects are mainly caused by retinal damages, including foveal hypoplasia, optic nerve hypoplasia, and progressive development of glaucoma. Timely initiation of treatment can prevent ongoing neural damage and preserve long-term vision.

However, detecting the disease at its earliest stages and monitoring disease progression continue to be substantial clinical challenges. About 90% of aniridia cases are related to mutations in the PAX6 gene, which plays a critical role in the early development of the eyes and the brain. Pax6 small-eye mice have been used as a model for aniridia disease, since they share the same nonsense mutation found in most aniridia patients. Dr. Grannonico plans on establishing a sensitive and accurate biomarker for monitoring the developmental neural damage by applying visible-light optical coherence tomography fibergraphy (vis-OCTF) technology in Pax6 small-eye mice, which mimic aniridia pediatric eye disease. By the end of this project, she will have new in vivo biomarkers for the developmental damage in the retina, which will profoundly impact broader pediatric ophthalmology. This work will represent the first vis-OCT application to pediatric diseases; and the findings of this research can be translated to human studies by using the same technology platform.