Dr. Susana da Silva from the University of Pittsburgh Awarded $69,859 Knights Templar Eye Foundation Grant for Embryonic Fovea Development and Foveal Hypoplasia Research

Dr. Susana da Silva from the University of Pittsburgh School of Medicine was awarded a grant for $69,859 for research entitled: Function and dysfunction of PAX6(+5a) in embryonic fovea development and foveal hypoplasia.

Our ability to see colors and perform high acuity visual tasks such as reading critically depends on the fovea which is a highly specialized area of our retina. Abnormal foveal development results in a condition named foveal hypoplasia that is characterized by deficits in visual acuity manifested from infancy to early childhood and comorbid association with several human genetic disorders. The pathogenic mechanisms underlying this condition remain however completely unknown. Foveal hypoplasia is commonly associated with Aniridia, which is a disorder caused by mutations in PAX6, a paired-domain transcription factor essential for eye morphogenesis. Interestingly, a specific PAX6 missense mutation (R128C) has been identified in an 8-year old boy with isolated foveal hypoplasia (IFH) suggesting that PAX6 might be critically involved in fovea development and IFH pathogenesis.

Using newly developed methods for embryological in vivo gene manipulations and the chick retina as a model system Dr. da Silva will test the role of PAX6(+5a) in fovea development and address how the R128C mutation identified in pediatric patients with IFH affects its function leading to foveal hypoplasia. This work will advance the understanding of the fundamental molecular mechanisms underlying fovea formation and contribute to the development of newer therapies for treating congenital foveal hypoplasia conditions.