%0 Journal Article
%T Medical Management of Hereditary Optic Neuropathies
%A Chiara La Morgia
%A Piero Barboni
%A Alfredo Arrigo Sadun
%A Valerio Carelli
%J Frontiers in Neurology
%D 2014
%I Frontiers Media
%R 10.3389/fneur.2014.00141
%X Hereditary optic neuropathies are diseases affecting the optic nerve. The most common are mitochondrial hereditary optic neuropathies, i.e., the maternally inherited Leber¡¯s hereditary optic neuropathy (LHON) and dominant optic atrophy (DOA). They both share a mitochondrial pathogenesis that leads to the selective loss of retinal ganglion cells and axons, in particular of the papillo-macular bundle. Typically, LHON is characterized by an acute/subacute loss of central vision associated with impairment of color vision and swelling of retinal nerve fibers followed by optic atrophy. DOA, instead, is characterized by a childhood-onset and slowly progressive loss of central vision, worsening over the years, leading to optic atrophy. The diagnostic workup includes neuro-ophthalmologic evaluation and genetic testing of the three most common mitochondrial DNA mutations affecting complex I (11778/ND4, 3460/ND1, and 14484/ND6) for LHON and sequencing of the nuclear gene OPA1 for DOA. Therapeutic strategies are still limited including agents that bypass the complex I defect and exert an antioxidant effect (idebenone). Further strategies are aimed at stimulating compensatory mitochondrial biogenesis. Gene therapy is also a promising avenue that still needs to be validated.
%K optic nerve
%K LHON
%K OPA1
%K DOA
%K hereditary
%K optic atrophy
%K leber
%K mitochondria
%U http://www.frontiersin.org/Journal/10.3389/fneur.2014.00141/abstract