Documenta Ophthalmologica, 2015, Vol.130(3), pp.179-187
Byline: Martina Jarc-Vidmar (1), Mojca Tajnik (2), Jelka Brecelj (1), Ana Fakin (1), Maja Sustar (1), Mateja Naji (3), Branka Stirn-Kranjc (1), Damjan Glavac (2), Marko Hawlina (1) Keywords: LHON; Leber hereditary optic neuropathy; Electrophysiology; PERG; VEP 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. Author Affiliation: (1) Eye Hospital, University Medical Centre, Grabloviceva 46, 1000, Ljubljana, Slovenia (2) Department of Molecular Genetics, Faculty of Medicine, University of Ljubljana, Korytkova, 1000, Ljubljana, Slovenia (3) University Medical Center Maribor, Ljubljanska ulica 5, 2000, Maribor, Slovenia Article History: Registration Date: 09/02/2015 Received Date: 24/11/2014 Accepted Date: 09/02/2015 Online Date: 19/02/2015 Article note: Part of this work was presented at 12th European Neuro-Ophthalmology Society, April 10--13, 2013, Oxford UK and at ISCEV July 2014, Boston USA. Martina Jarc-Vidmar and Mojca Tajnik have contributed equally to this work.
LHON ; Leber hereditary optic neuropathy ; Electrophysiology ; PERG ; VEP
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