title: A Review of Mitochondrial Optic Neuropathies: From Inherited to Acquired Forms.
abstract: In recent years, the term mitochondrial optic neuropathy (MON) has increasingly been used within the literature to describe a group of optic neuropathies that exhibit mitochondrial dysfunction in retinal ganglion cells (RGCs). Interestingly, MONs include genetic aetiologies, such as Leber hereditary optic neuropathy (LHON) and dominant optic atrophy (DOA), as well as acquired aetiologies resulting from drugs, nutritional deficiencies, and mixed aetiologies. Regardless of an inherited or acquired cause, patients exhibit the same clinical manifestations with selective loss of the RGCs due to mitochondrial dysfunction. Various novel therapies are being explored to reverse or limit damage to the RGCs. Here we review the pathophysiology, clinical manifestations, differential diagnosis, current treatment, and promising therapeutic targets of MON.
authors.affiliation: State University New York, College of Optometry, New York, USA. Electronic address: ypilz@sunyopt.edu.
authors.forename: Yasmine L
authors.initials: YL
authors.lastname: Pilz
authors.affiliation: State University New York, College of Optometry, New York, USA.
authors.forename: Sherry J
authors.initials: SJ
authors.lastname: Bass
authors.affiliation: State University New York, College of Optometry, New York, USA.
authors.forename: Jerome
authors.initials: J
authors.lastname: Sherman
mesh_terms: D004272:DNA, Mitochondrial; D003937:Diagnosis, Differential; D006801:Humans; D028361:Mitochondrial Diseases / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D029241:Optic Atrophy, Autosomal Dominant / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D029242:Optic Atrophy, Hereditary, Leber / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D009901:Optic Nerve Diseases / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D012165:Retinal Ganglion Cells / Q000473:pathology
chemical_list: D004272:DNA, Mitochondrial
keywords: Leber hereditary optic neuropathy; Neuropatía Óptica Hereditaria de Leber; células ganglionares de la retina; deficiencias nutricionales; mitochondria; mitocondria; neuropatía óptica; nutritional deficiencies; optic neuropathy; retinal ganglion cells