title: Leber's hereditary optic neuropathy mitochondrial DNA mutations in normal-tension glaucoma.
abstract: BACKGROUND
  in Leber's hereditary optic neuropathy, increased optic nerve cupping has been reported by several authors. Recently, a mitochondrial DNA (mtDNA) mutation at nucleotide 11778 typically associated with Leber's hereditary optic neuropathy (LHON) was identified in a patient treated for glaucoma but lacking typical signs of LHON. The question arises: should all normal-tension glaucoma patients be further evaluated for LHON?
  
  
  METHODS
  we screened 54 unselected patients with normal-tension glaucoma (age range 20-96 years, 16 men and 38 women) for the primary mtDNA LHON mutations at nucleotides 3460, 11778 and 14484.
  
  
  RESULTS
  none of the patients harboured the mtDNA mutations at nucleotides 3460, 11778 or 14484 (95% confidence intervals for each mutation ranged from 0% to 5.3%).
  
  
  CONCLUSIONS
  primary LHON mtDNA mutations are rare or absent in unselected normal-tension glaucoma patients. Therefore, unselected normal-tension glaucoma patients should not be screened for these mutations. It is probable that only normal-tension glaucoma patients with atypical features (rapid progression, early deep central scotoma, pallor of neuroretinal rim, elevated disc, peripapillary teleangiectasia) or a positive family history of visual loss compatible with a matrilinear transmission should be further evaluated.
authors.affiliation: Department of Ophthalmology, University of Bern, Switzerland. daniel.mojon@kssg.ch
authors.forename: D
authors.initials: D
authors.lastname: Opial
authors.forename: M
authors.initials: M
authors.lastname: Boehnke
authors.forename: S
authors.initials: S
authors.lastname: Tadesse
authors.forename: A
authors.initials: A
authors.lastname: Lietz-Partzsch
authors.forename: J
authors.initials: J
authors.lastname: Flammer
authors.forename: F
authors.initials: F
authors.lastname: Munier
authors.forename: A
authors.initials: A
authors.lastname: Mermoud
authors.forename: M
authors.initials: M
authors.lastname: Hirano
authors.forename: F
authors.initials: F
authors.lastname: Flückiger
authors.forename: D S
authors.initials: DS
authors.lastname: Mojon
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000737:chemistry; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D005902:Glaucoma, Open-Angle / Q000235:genetics*; D006801:Humans; D007429:Intraocular Pressure; D008297:Male; D008875:Middle Aged; D029242:Optic Atrophy, Hereditary, Leber / Q000235:genetics*; D016133:Polymerase Chain Reaction
chemical_list: D017931:DNA Primers; D004272:DNA, Mitochondrial