58
Views
0
CrossRef citations to date
0
Altmetric
Research Article

Clinical Characteristics of m.11778G>A Leber Hereditary Optic Neuropathy with Favorable Outcomes

&
Pages 320-323 | Received 06 Sep 2022, Accepted 26 Sep 2022, Published online: 29 Feb 2024

REFERENCES

  • Brown MD, Yang CC, Trounce I, Torroni A, Lott MT, Wallace DC. A mitochondrial DNA variant, identified in Leber hereditary optic neuropathy patients, which extends the amino acid sequence of cytochrome c oxidase subunit I. Am J Hum Genet. 1992;51:378–385.
  • Kim US, Jurkute N, Yu-Wai-Man P. Leber hereditary optic neuropathy-light at the end of the tunnel? Asia Pac J Ophthalmol (Phila). 2018;7(4):242–5. doi:10.22608/APO.2018293.
  • Tonska K, Kodron A, Bartnik E. Genotype–phenotype correlations in Leber hereditary optic neuropathy. Biochim Biophys Acta. 2010;1797(6–7):1119–1123. doi:10.1016/j.bbabio.2010.02.032.
  • Newman NJ, Carelli V, Taiel M, Yu-Wai-Man P. Visual outcomes in Leber hereditary optic neuropathy patients with the m.11778G>A (MTND4) mitochondrial DNA mutation. J Neuroophthalmol. 2020;40(4):547–557. doi:10.1097/WNO.0000000000001045.
  • Mashima Y, Kigasawa K, Shinoda K, Wakakura M, Oguchi Y. Visual prognosis better in eyes with less severe reduction of visual acuity one year after onset of Leber hereditary optic neuropathy caused by the 11,778 mutation. BMC Ophthalmol. 2017;17(1):192. doi:10.1186/s12886-017-0583-3.
  • Yu-Wai-Man P, Newman NJ, Carelli V. et al. Natural history of patients with Leber hereditary optic neuropathy—results from the REALITY study. Eye (Lond). 2021;36(4):818–826. doi:10.1038/s41433-021-01535-9.
  • Riordan-Eva P, Sanders MD, Govan GG, Sweeney MG, Da Costa J, Harding AE. The clinical features of Leber’s hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation. Brain. 1995;118(Pt 2):319–37. doi:10.1093/brain/118.2.319.
  • Hwang JM, Chang BL, Park SS. Clinical manifestations of lebers here ditary optic neuropathy with 11778 mitochondrial DNA mutation in koreans. J Korean Ophthalmol Soc. 2000;41:1775–1781.
  • Moorman CM, Elston JS, Matthews P. Leber’s hereditary optic neuropathy as a cause of severe visual loss in childhood. Pediatrics. 1993;91:988–9. doi:10.1542/peds.91.5.988.
  • Romero P, Fernandez V, Slabaugh M. et al. Pan-American mDNA haplogroups in Chilean patients with leber’s hereditary optic neuropathy. Mol Vis. 2014;20:334–340.
  • Spruijt L, Kolbach DN, de Coo RF. et al. Influence of mutation type on clinical expression of Leber hereditary optic neuropathy. Am J Ophthalmol. 2006;141(4):676–682. doi:10.1016/j.ajo.2005.11.007.
  • Nikoskelainen EK, Huoponen K, Juvonen V, Lamminen T, Nummelin K, Savontaus ML. Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations. Ophthalmology. 1996;103(3):504–14. doi:10.1016/S0161-6420(96)30665-9.
  • Sadun F, De Negri AM, Carelli V, Salomao SR, Berezovsky A, Andrade R, et al. Ophthalmologic findings in a large pedigree of 11778/Haplogroup J Leber hereditary optic neuropathy. Am J Ophthalmol. 2004;137(2):271–7. doi:10.1016/j.ajo.2003.08.010.
  • Swartz N, Savino PJ. Is all nondefinable optic atrophy Leber’s hereditary optic neuropathy? Surv Ophthalmol. 1994;39(2):146–50. doi:10.1016/0039-6257(94)90160-0.
  • Newman NJ, Lott MT, Wallace DC. The clinical characteristics of pedigrees of Leber’s hereditary optic neuropathy with the 11778 mutation. Am J Ophthalmol. 1991;111:750–62. doi:10.1016/S0002-9394(14)76784-4.
  • 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.
  • KA L-W. Idebenone: a review in Leber’s hereditary optic neuropathy. Drugs. 2016;76(7):805–813. doi:10.1007/s40265-016-0574-3.
  • Carelli V, La Morgia C, Valentino ML. et al. Idebenone treatment in Leber’s hereditary optic neuropathy. Brain. 2011;134(9):e188. doi:10.1093/brain/awr180.
  • Biousse V, Newman NJ, Yu-Wai-Man P. et al. Long-term follow-up after unilateral intravitreal gene therapy for Leber hereditary optic neuropathy: the RESTORE study. J Neuroophthalmol. 2021;41(3):309–15. doi:10.1097/WNO.0000000000001367.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.