title: Screening for Leber's hereditary optic neuropathy associated mitochondrial DNA mutations in patients with prominent optic neuritis.
abstract: Previous case reports demonstrated the presence of Leber's hereditary optic neuropathy (LHON) associated mitochondrial (mt) DNA mutations in patients presenting with prominent optic neuritis (PON). By screening the mtDNA, we have excluded the presence of these mutations in 22 patients with PON, indicating that the frequency of these mutations is less than 4.5% in our selected patient population. Reviewing the clinical data of these patients revealed that severe optic nerve atrophy developed in association with both the benign and the severely disabling form of Multiple Sclerosis (MS). This observation suggests that the prominent feature of ON in MS may be related to local factors or to a selective vulnerability of the optic nerve in some patients. However, it also may be consequence of a deleterious process associated with inflammatory demyelination in the central nervous system (CNS) of another, genetically probably distinct subgroup of severely disabled patients.
authors.affiliation: Department of Neurology, Thomas Jefferson University, Philadelphia, USA.
authors.forename: B
authors.initials: B
authors.lastname: Kalman
authors.forename: J L
authors.initials: JL
authors.lastname: Rodriguez-Valdez
authors.forename: U
authors.initials: U
authors.lastname: Bosch
authors.forename: F D
authors.initials: FD
authors.lastname: Lublin
mesh_terms: D000328:Adult; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D009103:Multiple Sclerosis / Q000150:complications / Q000235:genetics*; D009154:Mutation; D015418:Optic Atrophies, Hereditary / Q000235:genetics*; D009902:Optic Neuritis / Q000235:genetics*; D011110:Polymorphism, Genetic; D014786:Vision Disorders / Q000209:etiology
chemical_list: D004272:DNA, Mitochondrial