title: Screening for mt-DNA mutations in optic neuritis of unknown cause.
abstract: OBJECTIVE
  To investigate mitochondrial DNA (mt-DNA) mutations in optic neuritis of unknown cause (ONUC) and to assess the practical value of mt-DNA mutation detection in etiologically and differentially diagnosing ONUC.
  
  
  METHODS
  Thirty patients with ONUC were screened for mt-DNA mutations of nt11778, nt3460 and nt15257 by using SSCP, mutation-specific primer PCR and sequencing.
  
  
  RESULTS
  mt-DNA mutations were found in twelve of thirty ONUC patients. All of the mutations were at nt11778 position, but no one at nt3460 and nt15257.
  
  
  CONCLUSIONS
  Forty percent (12/30) of ONUC patients were caused by an mt-DNA mutation. Combined with other routine measures, screening for mt-DNA mutations in ONUC patients is of great significance in diagnosing ONUC etiologically and differentially.
authors.affiliation: Zhongshan Ophthalmic Center, Sun Yat-Sen University of Medical Sciences, Guangzhou 510060, China.
authors.forename: L
authors.initials: L
authors.lastname: Guo
authors.forename: X
authors.initials: X
authors.lastname: Jia
authors.forename: X
authors.initials: X
authors.lastname: Xiao
authors.forename: X
authors.initials: X
authors.lastname: Guo
authors.forename: Q
authors.initials: Q
authors.lastname: Yu
authors.forename: M
authors.initials: M
authors.lastname: Li
authors.forename: S
authors.initials: S
authors.lastname: Li
authors.forename: Q
authors.initials: Q
authors.lastname: Zhang
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D004272:DNA, Mitochondrial / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D009902:Optic Neuritis / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics; D016133:Polymerase Chain Reaction
chemical_list: D004272:DNA, Mitochondrial