Treatment of hereditary optic neuropathies

摘要: The hereditary optic neuropathies are inherited disorders in which nerve dysfunction is a prominent feature the phenotypic expression of disease. Optic neuropathy may be primarily an isolated finding, such as Leber and dominant atrophy, or part multisystem disorder. pathophysiological mechanisms underlying involve mitochondrial owing to mutations nuclear DNA that encodes proteins essential function. Effective treatments limited, current management includes therapies directed at enhancing function preventing oxidative damage, well genetic counselling, supportive symptomatic measures. New therapies, including gene therapy, emerging via animal models human clinical trials. neuropathy, particular, provides unique model for testing promising its characteristic sequential bilateral involvement accessibility target tissue within eye. Lessons learned from treatment have therapeutic implications other presumed dysfunction. In this Review, natural history common neuropathies, pathogenesis several these disorders, literature date regarding potential summarized.