Leber’s Hereditary Optic Neuropathy

  • An-Guor Wang


An 18-year-old male student came to the clinic because of gradual blurring of his right vision for the past 2 weeks. His vision dropped to 1/60 in the right eye, and he had normal acuity of 6/6 in the left. Color sense was only mildly impaired; he could identify 14 plates in the right eye and 15 plates in the left with the Ishihara test. Ophthalmoscopic examination showed a relatively normal disc in both eyes (Fig. 7.1) and a dense central scotoma in the right field (Fig. 7.2). Visual evoked potential was flat in the right eye and normal in the left eye (Fig. 7.3). However, pattern ERG was normal in both eyes with a relatively normal N95 in the right eye (Fig. 7.4). Increased peripapillary nerve fiber layer (RNFL) thickness was noted in the right eye by OCT examination. The average RNFL thickness was 115 μm in the right eye and 99 μm in the left (Fig. 7.5). Loss of the nasal half of the ganglion cell complex was also found in the right eye. The average GCL-IPL thickness was 71 μm in the right and 90 μm in the left eyes (Fig. 7.5). He received methylprednisolone 250 mg q6h intravenously for 3 days. Nevertheless, his vision did not recover. Peripheral blood DNA analysis revealed a mtDNA 11778G > A mutation. Two months later, the RNFL was still thickened in the right eye with average thickness of 118 μm in the right compared to 102 μm in the left. Nonetheless, the GCC complex was near totally lost in the right eye (Fig. 7.6).


  1. 1.
    Yen MY, Wang AG, Wei YH. Leber’s hereditary optic neuropathy: a multifactorial disease. Prog Retin Eye Res. 2006;25:381–96.CrossRefPubMedPubMedCentralGoogle Scholar
  2. 2.
    Huoponen K, Villki J, Aula P, Nikoskelainen EK, Savontaus ML. A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy. Am J Hum Genet. 1991;48:1147–53.PubMedPubMedCentralGoogle Scholar
  3. 3.
    Wallace DC, Singh G, Lott MT, Hodge JA, Schurr TG, Lezza AM, Elsas LJ, Nikoskelainen EK. Mitochondrial DNA mutation associated with Leber’s hereditary optic neuropathy. Science. 1998;242:1427–30.CrossRefGoogle Scholar
  4. 4.
    Johns DR, Neufeld MJ, Park RD. An ND6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. Biochem Biophys Res Commun. 1992;187:1551–7.CrossRefPubMedPubMedCentralGoogle Scholar
  5. 5.
    Newman NJ. Leber’s hereditary optic neuropathy. Ophthalmol Clin N Am. 1991;4:431–47.Google Scholar
  6. 6.
    Hsu TK, Wang AG, Yen MY, Liu JH. Leber’s hereditary optic neuropathy masquerading as optic neuritis with spontaneous visual recovery. Clin Exp Optom. 2014;97(1):84–6.CrossRefPubMedGoogle Scholar
  7. 7.
    Gueven N. Idebenone for Leber’s hereditary optic neuropathy. Drugs Today (Barc). 2016;52(3):173–81.CrossRefGoogle Scholar
  8. 8.
    Lyseng-Williamson KA. Idebenone: a review in Leber’s hereditary optic neuropathy. Drugs. 2016;76(7):805–13.CrossRefPubMedGoogle Scholar
  9. 9.
    Klopstock T, Yu-Wai-Man P, Dimitriadis K, Rouleau J, Heck S, Bailie M, Atawan A, Chattopadhyay S, Schubert M, Garip A, Kernt M, Petraki D, Rummey C, Leinonen M, Metz G, Griffiths PG, Meier T, Chinnery PF. A randomized placebo-controlled trial of idebenone in Leber’s hereditary optic neuropathy. Brain. 2011;134(Pt 9):2677–86.CrossRefPubMedPubMedCentralGoogle Scholar
  10. 10.
    Stone EM, Newman NJ, Miller NR, Johns DR, Lott MT, Wallace DC. Visual recovery in patients with Leber’s hereditary optic neuropathy and the 11778 mutation. J Clin Neuroophthalmol. 1992;12:10–4.PubMedGoogle Scholar
  11. 11.
    Mackey D, Howell N. A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology. Am J Hum Genet. 1992;51:1218–28.PubMedPubMedCentralGoogle Scholar

Copyright information

© Springer Nature Singapore Pte Ltd. 2018

Authors and Affiliations

  • An-Guor Wang
    • 1
  1. 1.Department of OphthalmologyTaipei Veterans General Hospital, National Yang-Ming University School of Medicine, Yun-San Ophthalmology Education Research FoundationTaipeiTaiwan

Personalised recommendations