Current Treatment Strategies and Future Prospects for Mitochondrial Disease

Defects in mitochondrial metabolism result in a heterogeneous group of genetic disorders characterized by marked variability in clinical presentation. Uncovering the underlying causative mutations is challenging, complicated by the fact that two sets of genomes, the nuclear and mitochondrial genomes, can contribute to disease pathogenesis. This session will provide a clinically oriented overview of the latest advances made in uncovering the genetic basis of mitochondrial disorders, their variable phenotypes, including both ocular and extraocular manifestations, and the emerging treatment options that are being evaluated.