title: Clinical and electrophysiology findings in Slovene patients with Leber hereditary optic neuropathy.
abstract: BACKGROUND
  To report clinical and electrophysiology findings in Slovene patients with Leber hereditary optic neuropathy (LHON).
  
  
  METHODS
  Eight patients with LHON (11-26 years; one female and seven males) were examined in acute stages and at follow-up visits by means of Snellen visual acuity, Ishihara color vision, Goldmann or Octopus G2TOP perimetry, fluorescein angiography (FAG), pattern electroretinogram (PERG), visual evoked potentials (VEP) and genetic testing.
  
  
  RESULTS
  Patients presented with typical LHON phenotype with bilateral visual acuity loss, abnormal color vision, central scotoma and hyperemic discs with no leakage on FAG. In the acute stage, electrophysiology was performed in 7/8 patients. The PERG P50 component was normal in 14/14 eyes, while the N95 component was reduced in 7/14 eyes. VEP wave P100 was reduced and delayed in 14/14 eyes. In this stage, temporal pallor of the optic disc was visible in 4/7 eyes with reduced PERG N95. At follow-up (1-11 months after), a reduced PERG N95 component was seen in 13/14 eyes and severely affected VEP in all eyes. In the only eye with a normal PERG N95, hyperemic optic disc was seen 5 months after visual acuity loss, while it was atrophic in all the others. Known mutations (14484T>C, 3460G>A) were found in 2/8 patients, while in others high-throughput sequencing identified new potentially pathogenic mutations.
  
  
  CONCLUSIONS
  In Leber hereditary optic neuropathy, a reduced N95 component of PERG and severely reduced VEP P100 may be present already in the acute stage of disease, before optic disc pallor appears, suggesting primary dysfunction of retinal ganglion cells.
authors.affiliation: Eye Hospital, University Medical Centre, Grablovičeva 46, 1000, Ljubljana, Slovenia, martina.jarc-vidmar@mf.uni-lj.si.
authors.forename: Martina
authors.initials: M
authors.lastname: Jarc-Vidmar
authors.forename: Mojca
authors.initials: M
authors.lastname: Tajnik
authors.forename: Jelka
authors.initials: J
authors.lastname: Brecelj
authors.forename: Ana
authors.initials: A
authors.lastname: Fakin
authors.forename: Maja
authors.initials: M
authors.lastname: Sustar
authors.forename: Mateja
authors.initials: M
authors.lastname: Naji
authors.forename: Branka
authors.initials: B
authors.lastname: Stirn-Kranjc
authors.forename: Damjan
authors.initials: D
authors.lastname: Glavač
authors.forename: Marko
authors.initials: M
authors.lastname: Hawlina
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D055253:Color Vision / Q000502:physiology; D004272:DNA, Mitochondrial / Q000235:genetics; D004596:Electroretinography; D005074:Evoked Potentials, Visual / Q000502:physiology*; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D008297:Male; D008875:Middle Aged; D029242:Optic Atrophy, Hereditary, Leber / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D009898:Optic Disk / Q000473:pathology*; D017354:Point Mutation / Q000235:genetics; D017524:Slovenia; D014786:Vision Disorders / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D014792:Visual Acuity / Q000502:physiology; D058609:Visual Field Tests; D055815:Young Adult
chemical_list: D004272:DNA, Mitochondrial