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Documenta Ophthalmologica
Published in: Documenta Ophthalmologica 3/2015

01-06-2015 | Original Research Article

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

Authors: Martina Jarc-Vidmar, Mojca Tajnik, Jelka Brecelj, Ana Fakin, Maja Sustar, Mateja Naji, Branka Stirn-Kranjc, Damjan Glavač, Marko Hawlina

Published in: Documenta Ophthalmologica | Issue 3/2015

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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.
Literature
1.
Yen MY, Wang AG, Wei YH (2006) Leber’s hereditary optic neuropathy: a multifactorial disease. Prog Retin Eye Res 25(4):381–396CrossRefPubMed
2.
3.
4.
Nikoskelainen EK, Huoponen K, Juvonen V et al (1996) Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations. Ophthalmology 103(3):504–514CrossRefPubMed
5.
Yu-Wai-Man P, Griffiths PG, Chinnery PF (2011) Mitochondrial optic neuropathies—disease mechanisms and therapeutic strategies. Prog Retin Eye Res 30(2):81–114CrossRefPubMedCentralPubMed
6.
Holder GE (1997) The pattern electroretinogram in anterior visual pathway dysfunction and its relationship to the pattern visual evoked potential: a personal clinical review of 743 eyes. Eye 11:924–934CrossRefPubMed
7.
Klopstock T, Yu-Wai-Man P, Dimitriadis K et al (2011) A randomized placebo-controlled trial of idebenone in Leber’s hereditary optic neuropathy. Brain 134:2677–2686CrossRefPubMedCentralPubMed
8.
9.
Huoponen K, Vilkki J, Aula P et al (1991) A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy. Am J Hum Genet 48(6):1147–1153PubMedCentralPubMed
10.
Howell N, Bindoff LA, McCullough DA et al (1991) Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees. Am J Hum Genet 49(5):939–950PubMedCentralPubMed
11.
Wallace DC, Singh G, Lott MT et al (1988) Mitochondrial DNA mutation associated with Leber’s hereditary optic neuropathy. Science 242(4884):1427–1430CrossRefPubMed
12.
Johns DR, Neufeld MJ, Park RD (1992) An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. Biochem Biophys Res Commun 187(3):1551–1557CrossRefPubMed
13.
Kumar M, Kaur P, Saxena R et al (2012) Clinical characterization and mitochondrial DNA sequence variations in Leber hereditary optic neuropathy. Mol Vis 18:2687–2699PubMedCentralPubMed
14.
Korkiamaki P, Kervinen M, Karjalainen K et al (2013) Prevalence of the primary LHON mutations in Northern Finland associated with bilateral optic atrophy and tobacco–alcohol amblyopia. Acta Ophthalmol 91(7):630–634CrossRefPubMed
15.
Taylor RW, Jobling MS, Turnbull DM, Chinnery PF (2003) Frequency of rare mitochondrial DNA mutations in patients with suspected Leber’s hereditary optic neuropathy. J Med Genet 40(7):e85CrossRefPubMedCentralPubMed
16.
Odom JV, Bach M, Brigell M et al (2010) ISCEV standard for clinical visual evoked potentials (2009 update). Doc Ophthalmol 120(1):111–119CrossRefPubMed
17.
Bach M, Brigell MG, Hawlina M et al (2013) ISCEV standard for clinical pattern electroretinography (PERG): 2012 update. Doc Ophthalmol 126(1):1–7CrossRefPubMed
18.
Hawlina M, Konec B (1992) New noncorneal HK-loop electrode for clinical electroretinography. Doc Ophthalmol 81(2):253–259CrossRefPubMed
19.
Shibata K, Shibagaki Y, Nagai C, Iwata M (1999) Visual evoked potentials and electroretinograms in an early stage of Leber’s hereditary optic neuropathy. J Neurol 246(9):847–849CrossRefPubMed
20.
Riordan-Eva P, Harding AE (1995) Leber’s hereditary optic neuropathy: the clinical relevance of different mitochondrial DNA mutations. J Med Genet 32(2):81–87CrossRefPubMedCentralPubMed
21.
Dorfman LJ, Nikoskelainen E, Rosenthal AR, Sogg RL (1977) Visual evoked potentials in Leber’s hereditary optic neuropathy. Ann Neurol 1(6):565–568CrossRefPubMed
22.
Mondelli M, Rossi A, Scarpini C et al (1990) BAEP changes in Leber’s hereditary optic atrophy: further confirmation of multisystem involvement. Acta Neurol Scand 81(4):349–353CrossRefPubMed
23.
Ziccardi L, Sadun F, De Negri AM et al (2013) Retinal function and neural conduction along the visual pathways in affected and unaffected carriers with Leber’s hereditary optic neuropathy. Invest Ophthalmol Vis Sci 54:6893–6901CrossRefPubMed
24.
Kwittken J, Barest HD (1958) The neuropathology of hereditary optic atrophy (Leber’s disease); the first complete anatomic study. Am J Pathol 34(1):185–207PubMedCentralPubMed
25.
Cortopassi G, Danielson S, Alemi M et al (2006) Mitochondrial disease activates transcripts of the unfolded protein response and cell cycle and inhibits vesicular secretion and oligodendrocyte-specific transcripts. Mitochondrion 6(4):161–175CrossRefPubMed
26.
Carelli V, Ross-Cisneros FN, Sadun AA (2004) Mitochondrial dysfunction as a cause of optic neuropathies. Prog Retin Eye Res 23(1):53–89CrossRefPubMed
27.
Lenassi E, Robson AG, Hawlina M, Holder GE (2012) The value of two-field pattern electroretinogram in routine clinical electrophysiologic practice. Retina 32(3):588–599CrossRefPubMed
28.
Acaroglu G, Kansu T, Dogulu CF (2001) Visual recovery patterns in children with Leber’s hereditary optic neuropathy. Int Ophthalmol 24(6):349–355CrossRefPubMed
29.
Barboni P, Savini G, Valentino ML et al (2006) Leber’s hereditary optic neuropathy with childhood onset. Invest Ophthalmol Vis Sci 47(12):5303–5309CrossRefPubMed
30.
Hrynchak PK, Spafford MM (1994) Visual recovery in a patient with Leber hereditary optic neuropathy and the 14484 mutation. Optom Vis Sci 71(10):604–612CrossRefPubMed
Metadata
Title
Clinical and electrophysiology findings in Slovene patients with Leber hereditary optic neuropathy
Authors
Martina Jarc-Vidmar
Mojca Tajnik
Jelka Brecelj
Ana Fakin
Maja Sustar
Mateja Naji
Branka Stirn-Kranjc
Damjan Glavač
Marko Hawlina
Publication date
01-06-2015
Publisher
Springer Berlin Heidelberg
Published in
Documenta Ophthalmologica / Issue 3/2015
Print ISSN: 0012-4486
Electronic ISSN: 1573-2622
DOI
https://doi.org/10.1007/s10633-015-9489-7

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