FALCON: A Prospective Natural History Study of Patients with OPA1-Autosomal Dominant Optic Atrophy (OPA1-ADOA)

Autosomal Dominant Optic Atropy (ADOA) is the most common inherited optic neuropathy seen in the general population, presenting in early childhood with slowly progressive visual loss. Over half of all patients are registered legally blind by the fifth decade of life. Most patients carry mutations in the OPA1 gene resulting in loss-of-function with ~ 50% reduction in cellular OPA1 protein level. OPA1 is a dynamin-related GTPase that localizes to the mitochondrial inner membrane and reduced levels precipitate the loss of retinal ganglion cells secondary to mitochondrial dysfunction. There is limited prospective data on the natural history of OPA1-ADOA, which is essential to determine the best outcome measures for treatment trials.