Abstract
A 22-year-old female sophomore college student complained of acute bilateral vision loss for 1 month. Prior to the vision problem, she was busy preparing for the examinations and stayed late often. She denied eye pain or headache, without fever or flu neither. The local hospital diagnosed her as “acute optic neuritis” and methylprednisolone 1 g for 3 days was given without improvement of the visual acuity. She was referred to our neuro-ophthalmology clinic for further evaluation.
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References
Case 1: Leber Hereditary Optic Neuropathy (Mutation 11778)
Gan D, Li M, Wu J, Sun X, Tian G. Analysis of genetic mutations in a cohort of hereditary optic neuropathy in Shanghai, China. J Ophthalmol. 2017;2017:6186052.
Newman NJ. Hereditary optic neuropathies: from the mitochondria to the optic nerve. Am J Ophthalmol. 2005;140(3):517–23.
Newman NJ, Biousse V. Hereditary optic neuropathies. Eye (Lond). 2004;18(11):1144–60.
Yu-Wai-Man P, Newman NJ. Inherited eye-related disorders due to mitochondrial dysfunction. Hum Mol Genet. 2017;26(R1):R12–20.
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.
Blanc C, Heran F, Habas C, Bejot Y, Sahel J, Vignal-Clermont C. MRI of the optic nerves and chiasm in patients with leber hereditary optic neuropathy. J Neuroophthalmol. 2018;38(4):434–7.
Ong E, Biotti D, Abouaf L, Louis-Tisserand G, Tilikete C, Vighetto A. Teaching neuroimages: chiasmal enlargement and enhancement in Leber hereditary optic neuropathy. Neurology. 2013;81(17):e126–7.
Vaphiades MS, Phillips PH, Turbin RE. Optic nerve and chiasmal enhancement in Leber hereditary optic neuropathy. J Neuroophthalmol. 2003;23(1):104–5.
Lamirel C, Cassereau J, Cochereau I, Vignal-Clermont C, Pajot O, Tanguy JY, Zanlonghi X, Reynier P, Amati-Bonneau P, Dubas F, Bonneau D, Verny C. Papilloedema and MRI enhancement of the prechiasmal optic nerve at the acute stage of Leber hereditary optic neuropathy. J Neurol Neurosurg Psychiatry. 2010;81(5):578–80.
Case 2: Leber Hereditary Optic Neuropathy (11778 mutation, pediatric)
Watanabe Y, Odaka M, Hirata K. [Case of Leber’s hereditary optic neuropathy with mitochondrial DNA 11778 mutation exhibiting cerebellar ataxia, dilated cardiomyopathy and peripheral neuropathy]. Brain Nerve. 2009;61(3):309–12.
Nakaso K, Adachi Y, Fusayasu E, Doi K, Imamura K, Yasui K, Nakashima K. Leber’s hereditary optic neuropathy with olivocerebellar degeneration due to G11778A and T3394C mutations in the mitochondrial DNA. J Clin Neurol. 2012;8(3):230–4.
Case 3: Leber Hereditary Optic Neuropathy (11778 mutation, elder)
Newman NJ. Hereditary optic neuropathies: from the mitochondria to the optic nerve. Am J Ophthalmol. 2005;140(3):517–23.
Newman NJ, Biousse V. Hereditary optic neuropathies. Eye (Lond). 2004;18(11):1144–60.
Lu P, Tian G, Liu X, Wang F, Zhang Z, Sha Y. Differentiating neuromyelitis optica-related and multiple sclerosis-related acute optic neuritis using conventional magnetic resonance imaging combined with readout-segmented echo-planar diffusion-weighted imaging. J Comput Assist Tomogr. 2018;42(4):502–9.
Lu P, Sha Y, Wan H, Wang F, Tian G, Tang W. Assessment of nonarteritic anterior ischemic optic neuropathy with intravoxel incoherent motion diffusion-weighted imaging using readout-segmented echo-planar imaging, parallel imaging, and 2D navigator-based reacquisition. J Magn Reson Imaging. 2017;46(6):1760–6.
Case 4: Leber Hereditary Optic Neuropathy (11778 mutation, sequential)
Asanad S, Tian JJ, Frousiakis S, et al. Optical coherence tomography of the retinal ganglion cell complex in Leber’s hereditary optic neuropathy and dominant optic atrophy. Curr Eye Res. 2019;44(6):638–44.
Darvizeh F, Asanad S, Falavarjani KG, et al. Choroidal thickness and the retinal ganglion cell complex in chronic Leber’s hereditary optic neuropathy: a prospective study using swept-source optical coherence tomography. Eye (Lond). 2020;34(9):1624–30.
Case 5: Leber Hereditary Optic Neuropathy (11778 Mutation, with MRI Enhanced)
Lamirel C, Cassereau J, Cochereau I, Vignal-Clermont C, Pajot O, Tanguy JY, Zanlonghi X, Reynier P, Amati-Bonneau P, Dubas F, Bonneau D, Verny C. Papilloedema and MRI enhancement of the prechiasmal optic nerve at the acute stage of Leber hereditary optic neuropathy. J Neurol Neurosurg Psychiatry. 2010;81(5):578–80.
Vaphiades MS, Phillips PH, Turbin RE. Optic nerve and chiasmal enhancement in Leber hereditary optic neuropathy. J Neuroophthalmol. 2003;23(1):104–5.
Blanc C, Heran F, Habas C, Bejot Y, Sahel J, Vignal-Clermont C. MRI of the optic nerves and chiasm in patients with Leber hereditary optic neuropathy. J Neuroophthalmol. 2018;38(4):434–7.
Pfeffer G, Burke A, Yu-Wai-Man P, Compston DA, Chinnery PF. Clinical features of MS associated with Leber hereditary optic neuropathy mtDNA mutations. Neurology. 2013;81(24):2073–81.
Shiraishi W, Hayashi S, Kamada T, Isobe N, Yamasaki R, Murai H, Ohyagi Y, Kira J. A case of neuromyelitis optica harboring both anti-aquaporin-4 antibodies and a pathogenic mitochondrial DNA mutation for Leber’s hereditary optic neuropathy. Mult Scler. 2014;20(2):258–60.
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.
Ong E, Biotti D, Abouaf L, Louis-Tisserand G, Tilikete C, Vighetto A. Teaching neuroimages: chiasmal enlargement and enhancement in Leber hereditary optic neuropathy. Neurology. 2013;81(17):e126–7.
Case 6: Leber Hereditary Optic Neuropathy (Mutation 13513)
Santorelli FM, Tanji K, Kulikova R, Shanske S, Vilarinho L, Hays AP, DiMauro S. Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS. Biochem Biophys Res Commun. 1997;238(2):326–8.
Hsieh YT, Yang MT, Peng YJ, Hsu WC. Central retinal vein occlusion as the initial manifestation of LHON/MELAS overlap syndrome with mitochondrial DNA G13513A mutation--case report and literature review. Ophthalmic Genet. 2011;32(1):31–8.
Wang K, Yan CZ, Wang GX, Jiao JS, Jin M. [Mitochondrial ND5 as the causative gene of Leight syndrome]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010;27(6):616–9.
Sudo A, Honzawa S, Nonaka I, Goto Y. Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan. J Hum Genet. 2004;49(2):92–6.
Pfeffer G, Burke A, Yu-Wai-Man P, Compston DA, Chinnery PF. Clinical features of MS associated with Leber hereditary optic neuropathy mtDNA mutations. Neurology. 2013;81(24):2073–81.
Shiraishi W, Hayashi S, Kamada T, Isobe N, Yamasaki R, Murai H, Ohyagi Y, Kira J. A case of neuromyelitis optica harboring both anti-aquaporin-4 antibodies and a pathogenic mitochondrial DNA mutation for Leber’s hereditary optic neuropathy. Mult Scler. 2014;20(2):258–60.
Case 7: Leber Hereditary Optic Neuropathy (Mutation 14484)
Newman NJ. Hereditary optic neuropathies: from the mitochondria to the optic nerve. Am J Ophthalmol. 2005;140(3):517–23.
Newman NJ, Biousse V. Hereditary optic neuropathies. Eye (Lond). 2004;18(11):1144–60.
Case 8: Leber Hereditary Optic Neuropathy (Mutation 3460)
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.
McClelland CM, Van Stavern GP, Tselis AC. Leber hereditary optic neuropathy mimicking neuromyelitis optica. J Neuroophthalmol. 2011;31(3):265–8.
Hashemi N, Yalamanchili SS, Zhang J, Lee AG. Leber hereditary optic neuropathy mimicking thyroid-related optic neuropathy. J Neuroophthalmol. 2012;32(1):95–6.
Smith JL, Hoyt WF, Susac JO. Ocular fundus in acute Leber optic neuropathy. Arch Ophthalmol. 1973;90:349–54.
Newman NJ, Biousse V. Hereditary optic neuropathies. Eye (Lond). 2004;18(11):1144–60.
Case 9: Leber Hereditary Optic Neuropathy (Mutation 4174+12811)
Gan D, Li M, Wu J, Sun X, Tian G. Analysis of genetic mutations in a cohort of hereditary optic neuropathy in Shanghai, China. J Ophthalmol. 2017;2017:6186052.
La Morgia C, Caporali L, Gandini F, et al. Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions. BMC Neurol. 2014;14:116.
Zhou HP, Ishikawa H, Yasumoto R, Sakurai K, Sawamura H. Leber hereditary optic neuropathy harboring a rare m.12811 T>C mitochondrial DNA mutation. Can J Ophthalmol. 2021;56(3):e82–4.
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Tian, G., Sun, X., Wu, J. (2022). Leber Hereditary Optic Neuropathy. In: Tian, G., Sun, X. (eds) Neuro-Ophthalmology. Springer, Singapore. https://doi.org/10.1007/978-981-19-4668-4_8
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DOI: https://doi.org/10.1007/978-981-19-4668-4_8
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