Primary cilia are evolutionarily conserved organelles that play a central role in development and disease. In the eye, photoreceptors have long been recognized as having modified cilia with a specialized function in phototransduction. However, the functions of cilia in non-photoreceptor cells are much less understood. Our research is directed towards investigating the structure and function of primary cilia as regulators of eye pressure, neuronal degeneration and regeneration. We are using rare human diseases in which the primary cilia are defective, such as Lowe syndrome and Joubert syndrome, to identify molecular mechanisms in degenerative diseases including glaucoma and retinal degeneration. In particular, we are studying inositol phosphatases such as OCRL and INPP5E, which cause Lowe syndrome and Joubert syndrome respectively, and are known to play critical roles in eye development and disease. Our ultimate goals are to develop targeted therapies not only for these rare diseases but also for the common forms of visually blinding conditions. My clinical practice is focused on the medical and surgical management of glaucoma, with the goal of translating our discoveries to treat visually blinding diseases.