Grant: Project Grant

Retinal degenerations are disorders of the retina that cause vision loss and often lead to blindness. There are many genetic and non-genetic causes of these disorders. To study them, researchers often use animal models, but not all models accurately reproduce all the features of the disease. Recently, we have discovered a new animal model in genetically modified X. laevis frogs that have mutations in the PRPH2 gene. These frogs develop deposits in their retina that are similar to those found in human retinal degenerations such as the rare inherited disorders pattern dystrophy and Stargardt disease, and the common disorder age-related macular degeneration, which affects 1 in 3 people over age 70. These deposits are not commonly found in mouse models. We propose a series of experiments to study these deposits and compare them to human pathology. We also plan to model two human different retinal disorders that have deposits, pattern dystrophy and Stargardt disease, and determine if they have the same disease mechanism. These experiments will help us understand these disorders and ultimately lead to better treatments or cures.