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Clinical and electrophysiology findings in Slovene patients with Leber hereditary optic neuropathy

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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.

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Acknowledgments

All authors certify that they have no affiliations with or involvement in any organization or entity with any financial interest (such as honoraria; educational grants; participation in speakers’ bureaus; membership, employment, consultancies, stock ownership, or other equity interest; and expert testimony or patent-licensing arrangements) or non-financial interest (such as personal or professional relationships, affiliations, knowledge or beliefs) in the subject matter or materials discussed in this manuscript. This study was partially supported by Slovenian Research Agency (ARRS P3-0333). The authors are grateful to Mrs. Marija Jesenšek, Mrs. Ana Jeršin and Mrs. Helena Lindič, who were involved in the clinical ERG and VEP recording.

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Authors and Affiliations

  1. Eye Hospital, University Medical Centre, Grablovičeva 46, 1000, Ljubljana, Slovenia

    Martina Jarc-Vidmar, Jelka Brecelj, Ana Fakin, Maja Sustar, Branka Stirn-Kranjc & Marko Hawlina

  2. Department of Molecular Genetics, Faculty of Medicine, University of Ljubljana, Korytkova, 1000, Ljubljana, Slovenia

    Mojca Tajnik & Damjan Glavač

  3. University Medical Center Maribor, Ljubljanska ulica 5, 2000, Maribor, Slovenia

    Mateja Naji

Authors
  1. Martina Jarc-Vidmar
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  2. Mojca Tajnik
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  3. Jelka Brecelj
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  4. Ana Fakin
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  5. Maja Sustar
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  6. Mateja Naji
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  7. Branka Stirn-Kranjc
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  8. Damjan Glavač
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  9. Marko Hawlina
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Corresponding author

Correspondence to Martina Jarc-Vidmar.

Additional information

Martina Jarc-Vidmar and Mojca Tajnik have contributed equally to this work.

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Jarc-Vidmar, M., Tajnik, M., Brecelj, J. et al. Clinical and electrophysiology findings in Slovene patients with Leber hereditary optic neuropathy. Doc Ophthalmol 130, 179–187 (2015). https://doi.org/10.1007/s10633-015-9489-7

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  • DOI: https://doi.org/10.1007/s10633-015-9489-7

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