The most well-studied pathology associated with OPA1 is autosomal dominant optic atrophy (ADOA), where heterozygous pathogenic variants in OPA1 account for over >60% of patients with this phenotype [123,124], and can also cause phenotypes such as optic neuropathy [124], auditory neuropathy [125,126], and peripheral neuropathy [125,127]. The gene discussed is OPA1; the disease is Optic neuropathy.