References
- Yen MY, Wang AG, Wei YH. Leber’s hereditary optic neuropathy: a multifactorial disease. Prog Retin Eye Res 2006;25:381–396.
- 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;111:750–762.
- 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):319–337.
- 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;103:504–514.
- Brenner L, Bynke G, Bynke H. Leber’s hereditary optic neuropathy: a report of two unusual cases. Neuro-ophthalmology 1999;22:239–244.
- Ohden KL, Tang PH, Lilley CC, Lee MS. Atypical Leber hereditary optic neuropathy: 18 year interval between eyes. J Neuro-ophthalmol 2016; Epub ahead of print.
- Stewart JB, Chinnery PF. The dynamics of mitochondrial DNA heteroplasmy: implications for human health and disease. Nat Rev Genet 2015;16:530–542.
- Chinnery PF, Andrews RM, Turnbull DM, Howell NN. Leber hereditary optic neuropathy: does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation? Am J Med Genet 2001;98:235–243.
- Klopstock T, Metz G, Yu-Wai-Man P, Buchner B, Gallenmuller C, Bailie M, Nwali N, Griffiths PG, von Livonius B, Reznicek L, Rouleau J, Coppard N, Meier T, Chinnery PF. Persistence of the treatment effect of idebenone in Leber’s hereditary optic neuropathy. Brain 2013;136(Pt 2):e230.
- Sadun AA. Are we there yet? Is neuro-ophthalmology at the cusp of a paradigm shift? Lessons from leber hereditary optic neuropathy. J Neuro-ophthalmol 2013;33:189–197.