title: Diagnostic potential of mitochondrial DNA assessment in patients with optic neuropathy.
abstract: OBJECTIVE
  To study the primary mutations of mitochondrial DNA (mtDNA) associated with Leber's hereditary optic neuropathy (LHON) in patients with optic neuropathy.
  
  
  METHODS
  Seventy-nine patients with a variety of bilateral optic neuropathies were examined. Mutations at np3460, np11,778 and np14,484 of mtDNA were tested by PCR-restriction detection in peripheral blood DNA from 16 cases of clinically probable LHON, 44 cases of possible LHON, 2 cases of alcohol amblyopia, 4 cases of multiple sclerosis, 5 cases of autosomal dominant optic atrophy, 4 cases of primary open-angle glaucoma, 3 cases of spinocerebellar degeneration, and 1 case of ethambutol-induced optic neuropathy.
  
  
  RESULTS
  The mutation at np11778 was identified in 31 cases (39.2%) to establish LHON, which consisted of: all 16 of clinically probable LHON cases, 13 cases (29.5%) of possible LHON, and 2 cases of alcohol amblyopia. The remaining 48 cases were negative for mtDNA mutations at np3460, np11 778, and np14,484.
  
  
  CONCLUSIONS
  Assessment of mtDNA provides a useful diagnostic aid in the definition and exclusion of LHON, in particular family history-negative, otherwise undefined bilateral optic nerve inflammatory disease.
authors.affiliation: Department of Ophthalmology, Second Affiliated Hospital of China Medical University, Shenyang 110003, China.
authors.forename: X
authors.initials: X
authors.lastname: Feng
authors.forename: W
authors.initials: W
authors.lastname: Pu
authors.forename: D
authors.initials: D
authors.lastname: Gao
authors.forename: Y
authors.initials: Y
authors.lastname: Isashiki
authors.forename: N
authors.initials: N
authors.lastname: Ohba
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009901:Optic Nerve Diseases / Q000175:diagnosis* / Q000235:genetics; D017354:Point Mutation; D016133:Polymerase Chain Reaction
chemical_list: D004272:DNA, Mitochondrial