Autosomal dominant optic atrophy (ADOA) is the commonest form of inherited optic neuropathy. Mutations in the OPA1 gene encoding a dynamin-related mitochondrial protein underlie ADOA and may perturb the biogenesis and maintenance of mitochondria.
Department of Laboratory Medicine, Seoul National University College of Medicine and Seoul National University Hospital Clinical Research Institute, and Seoul Seobu Blood Center, Korean Red Cross, Seoul, Korea.