Photoreceptor Metabolism in Age-related Macular Degeneration Pathogenesis

Age-related macular degeneration (AMD) is the leading cause of visual impairment in the elderly of the industrialized world. The disease etiology remains unclear, which has complicated the development of treatments for the disease. In a seminal study published in 2020 in PNAS, Dr. Punzo proposed that aberrant photoreceptor metabolism contributes to the development and progression of (AMD).

His laboratory compared the expression of metabolic genes in patients with AMD to non-diseased individuals and then mimicked the findings in mouse. This resulted in the first animal model of AMD that recapitulates all major disease hallmarks. In the talk he reviewed the new animal model as an introduction and presented an exciting analysis of the downstream cascade of events that contribute to AMD. Most importantly, he has identified a new therapeutic target gene for the treatment of AMD that has great therapeutic potential.