A Prospective Natural History Study of Patients With Autosomal Dominant Optic Atrophy (ADOA)

ADOA is the most common inherited neuro-ophthalmic disorder. Patients typically present in the first decade of life and up to 46% of patients progress to be legally blind. Up to 90% of ADOA cases are caused by a heterozygous mutation in the nuclear gene OPA1, often leading to haploinsufficiency of the OPA1 protein. Reduced OPA1 protein levels are associated with impaired mitochondrial function in retinal ganglion cells leading to apoptosis causing progressive and irreversible vision loss. The natural history of optical neurodegeneration in patients with ADOA is understudied.