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Murakhovskaya Yu.K.

Krasnov Research Institute of Eye Diseases;
I.M. Sechenov First Moscow State Medical University (Sechenov University)

Sheremet N.L.

Krasnov Research Institute of Eye Diseases

Eliseeva D.D.

Research Center of Neurology

Bryukhov V.V.

Research Center of Neurology

Brain magnetic resonance imaging features in Leber’s hereditary optic neuropathy

Authors:

Murakhovskaya Yu.K., Sheremet N.L., Eliseeva D.D., Bryukhov V.V.

More about the authors

Journal: Russian Annals of Ophthalmology. 2024;140(5): 146‑153

DOI: 10.17116/oftalma2024140051146

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Table of contents

BRAIN MAGNETIC RESONANCE IMAGING FEATURES IN LEBER’S HEREDITARY OPTIC NEUROPATHY
BRAIN MAGNETIC RESONANCE IMAGING FEATURES IN LEBER’S HEREDITARY OPTIC NEUROPATHY

To cite this article:

Murakhovskaya YuK, Sheremet NL, Eliseeva DD, Bryukhov VV. Brain magnetic resonance imaging features in Leber’s hereditary optic neuropathy. Russian Annals of Ophthalmology. 2024;140(5):146‑153. (In Russ.)
https://doi.org/10.17116/oftalma2024140051146

Подписка 2026 Вестник офтальмологии (Russian Annals of Ophthalmology)
МСФ на ЯМ
Использование инфографики авторами научных работ
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Abstract:

Leber’s hereditary optic neuropathy (LHON) is the most common inherited mitochondrial disease, characterized by the development of bilateral partial optic nerve atrophy. Modern neuroimaging technologies enable the acquisition of high-quality images, allowing for the evaluation of all structural components of the orbits, including the optic nerve. Consequently, the relevance of performing magnetic resonance imaging (MRI) in patients with LHON has increased. MRI is an essential tool for clarifying the topographic localization and the extent of the pathological process in LHON, both within and beyond the visual system. Correlating MRI findings with the clinical manifestations of LHON can help in predicting disease progression and assessing the effectiveness of therapy.

Keywords:

optic neuropathy
Leber`s hereditary optic neuropathy
magnetic resonance imaging

Authors:

Murakhovskaya Yu.K.

Krasnov Research Institute of Eye Diseases;
I.M. Sechenov First Moscow State Medical University (Sechenov University)

Sheremet N.L.

Krasnov Research Institute of Eye Diseases

Eliseeva D.D.

Research Center of Neurology

Bryukhov V.V.

Research Center of Neurology

Received:

14.03.2024

Accepted:

13.06.2024

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References:

  1. Milea D, Amati-Bonneau P, Reynier P, Bonneau D. Genetically determined optic neuropathies. Curr Opin Neurol. 2010;23(1):24-28.  https://doi.org/10.1097/WCO.0b013e3283347b27
  2. Yu-Wai-Man P, Griffiths PG, Chinnery PF. Mitochondrial optic neuropathies — disease mechanisms and therapeutic strategies. Progr Retin Eye Res. 2011;30(2):81-114.  https://doi.org/10.1016/j.preteyeres.2010.11.002
  3. Poincenot L, Pearson AL, Karanjia R. Demographics of a Large International Population of Patients Affected by Leber’s Hereditary Optic Neuropathy. Ophthalmology. 2020;127(5):679-688.  https://doi.org/10.1016/j.ophtha.2019.11.014
  4. https://www.mitomap.org//bin/view.pl/MITOMAP/MutationsLHON
  5. Stenton SL, Sheremet NL, Catarino CB, et al. Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy. J Clin Invest. 2021; 131(6):e138267. https://doi.org/10.1172/jci138267
  6. Sheremet NL, Krylova TD, Tsygankova PG. New possibilities in diagnosis of hereditary optic neuropathies. Russian Annals of Ophthalmology = Vestnik oftal’mologii. 2021;137(5.2):361-366 (In Russ.). https://doi.org/10.17116/oftalma2021137052361
  7. Murakhovskaya YuK, Sheremet NL, Shmelkova MS, Krylova TD, Tsygankova PG. Autosomal recessive optic neuropathies: genetic variants, clinical manifestations. Russian Annals of Ophthalmology = Vestnik oftal’mologii. 2022;138(6):116-122 (In Russ.). https://doi.org/10.17116/oftalma2022138061116
  8. Eliseeva DD, Kalashnikova AK, Bryukhov VV, Andreeva NA, Zhorzholadze NV, Murakhovskaya YuK, Krylova TD, Tsygankova PG, Zakharova MN, Sheremet NL. Hereditary optic neuropathy associated with demyelinating diseases of the central nervous system. S.S. Korsakov Journal of Neurology and Psychiatry. 2023;123(7-2):122-132 (In Russ.). https://doi.org/10.17116/jnevro2023123072122
  9. Matthews L, Enzinger C, Fazekas F, Rovira A, Ciccarelli O, Dotti MT, Filippi M, Frederiksen JL, Giorgio A, Küker W, Lukas C, Rocca MA, De Stefano N, Toosy A, Yousry T, Palace J. MRI in Leber’s hereditary optic neuropathy: The relationship to multiple sclerosis. J Neurol Neurosurg Psychiatry. 2015;86(5):537-542.  https://doi.org/10.1136/jnnp-2014-308186
  10. Yu-Wai-Man P, Votruba M, Burté F, La Morgia C, Barboni P, Carelli V. A neurodegenerative perspective on mitochondrial optic neuropathies. Acta Neuropathologica. 2016;132(6):789-806.  https://doi.org/10.1007/s00401-016-1625-2
  11. Carelli V, Hawlina M, Klopstock T, Vignal-Clermont C, Yu-Wai-Man P. Leber’s Hereditary Optic Neuropathy — A Global Perspective. Eur Ophthalm Rev. 2019;13(Suppl 2):3-7. 
  12. Borrelli E, Triolo G, Cascavilla ML, et al. Changes in Choroidal Thickness follow the RNFL Changes in Leber’s Hereditary Optic Neuropathy. Sci Rep. 2016;6:37332. https://doi.org/10.1038/srep37332
  13. Hofhaus G, Johns DR, Hurko O, Attardi G, Chomyn A. Respiration and growth defects in transmitochondrial cell lines carrying the 11778 mutation associated with Leber’s hereditary optic neuropathy. J Biol Chem. 1996; 271:13155-13161. https://doi.org/10.1074/jbc.271.22.13155
  14. Carelli V, La Morgia C, Ross-Cisneros FN, Sadun AA. Optic neuropathies: the tip of the neurodegeneration iceberg. Hum Mol Genet. 2017;26(R2):R139-R150. https://doi.org/10.1093/hmg/ddx273
  15. Botelho GIS, Salomao SR, Tengan CH, Karanjia R, Moura FV, Rocha DM, da Silva PBE, Fernandes AG, Watanabe SES, Sacai PY, Belfort R Jr, Carelli V, Sadun AA, Berezovsky A. Impaired Ganglion Cell Function Objectively Assessed by the Photopic Negative Response in Affected and Asymptomatic Members From Brazilian Families With Leber’s Hereditary Optic Neuropathy. Front Neurol. 2021;18(11):628014. https://doi.org/10.3389/fneur.2020.628014
  16. Chun BY, Rizzo JF 3rd. Dominant optic atrophy: updates on the pathophysiology and clinical manifestations of the optic atrophy 1 mutation. Curr Opin Ophthalmol. 2016;27(6):475-480.  https://doi.org/10.1097/ICU.0000000000000314
  17. Yu-Wai-Man CY, Chinnery PF, Griffiths PG. Optic neuropathies —importance of spatial distribution of mitochondria as well as function. Med Hypotheses. 2005;65(6):1038-1042. https://doi.org/10.1016/j.mehy.2004.10.021
  18. Erichev VP, Panyushkina LA, Novikov IA, Briukhov VV. Diffusion tensor magnetic resonance imaging in the diagnosis of visual pathway neurodegeneration in glaucoma. Russian Annals of Ophthalmology = Vestnik oftal’mologii. 2015;131(2):59-63 (In Russ.). https://doi.org/10.17116/oftalma2015131259-63
  19. Vaphiades MS, Phillips PH, Turbin RE. Optic nerve and chiasmal enhancement in leber hereditary optic neuropathy. J Neuroophthalmol. 2003;23(1): 104-105.  https://doi.org/10.1097/00041327-200303000-00057
  20. Vaphiades MS, Newmann NJ. Optic nerve enhancement on orbital magnetic resonance imaging in Leberʼs hereditary optic neuropathy. J Neuroophthalmol. 1999;19:238-239. 
  21. Honda H, Tsujihata M, Ochi M, Satoh A, Tomita I, Fujikawa A. [Hyperintense optic nerve lesion on T2-weighted MRI imaging in the acute stage of Leber’s hereditary optic neuropathy: a case report]. Rinsho Shinkeigaku. 2006;46(4):294-296. 
  22. Lamirel C, Cassereau J, Cochereau I, et al. Papilloedema and MRI enhancement of the prechiasmal optic nerve at the acute stage of Leber hereditary optic neuropathy. J Neurol Neurosurg Psychiatry. 2010;81:578-580.  https://doi.org/10.1136/jnnp.2009.174953
  23. Furuki M, Ohkubo T, Ota K, Ishikawa K, Yokota T, Mizusawa H. [Optic nerve swelling and gadolinium contrast enhancement on magnetic resonance imaging in the subacute stage of Leber’s hereditary optic neuropathy: a case report]. Rinsho Shinkeigaku. 2012;52(2):102-105.  https://doi.org/10.5692/clinicalneurol.52.102
  24. Kermode AG, Moseley IF, Kendall BE, et al. Magnetic resonance imaging in Leber’s optic neuropathy. J Neurol Neurosurg Psychiatry. 1989;52:671-674.  https://doi.org/10.1136/jnnp.52.5.671
  25. Jacobs L, Kinkel PR, Kinkel WR. Silent brain lesions in patients with isolated optic neuritis. Arch Neurol. 1986;43:452-455.  https://doi.org/10.1001/archneur.1986.00520050032017
  26. Adams JH, Blackwood W, Wilson J. Further clinical and pathological observations on Leber’s optic atrophy. Brain. 1966;89:15-26.  https://doi.org/10.1093/brain/89.1.15
  27. Kwittken J, Barest HD. The neuropathology of hereditary optic atrophy (Leber’s disease): the first complete anatomic study. Am J Pathol. 1958;34: 185-207. 
  28. 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.  https://doi.org/10.1093/brain/118.2.319
  29. Mashima Y, Oshitari K, Imamura Y, et al Orbital high resolution magnetic resonance imaging with fast spin echo in the acute stage of Leber’s hereditary optic neuropathy. J Neurol Neurosurg Psychiatry. 1998;64:124-127.  https://doi.org/10.1136/jnnp.64.1.124
  30. Guy J, Mancuso A, Quisling RG, Beck R, Moster M. Gadolinium-DTPA-enhanced magnetic resonance imaging in optic neuropathies. Ophthalmology. 1990;97(5):592-600. 
  31. Mercuri MA, White H, Oliveira C. Vision Loss and Symmetric Basal Ganglia Lesions in Leber Hereditary Optic Neuropathy. J Neuroophthalmol. 2017;37(4):411-413.  https://doi.org/10.1097/WNO.0000000000000524
  32. Inglese M, Rovaris M, Bianchi S, et al. Magnetic resonance imaging, magnetisation transfer imaging, and diffusion weighted imaging correlates of optic nerve, brain, and cervical cord damage in Leber’s hereditary optic neuropathy. J Neurol Neurosurg Psychiatry. 2001;70:444-449.  https://doi.org/10.1136/jnnp.70.4.444
  33. 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):434-437.  https://doi.org/10.1097/WNO.0000000000000621
  34. Cui S, Yang L, Jiang H, et al. Clinical Features of Chinese Sporadic Leber Hereditary Optic Neuropathy Caused by Rare Primary mtDNA Mutations. J Neuroophthalmol. 2020;40(1):30-36.  https://doi.org/10.1097/WNO.0000000000000799
  35. Kogachi K, Ter-Zakarian A, Asanad S, Sadun A, Karanjia R. Toxic medications in Leber’s hereditary optic neuropathy. Mitochondrion. 2019;46: 270-277.  https://doi.org/10.1016/j.mito.2018.07.007
  36. Zhao J, Zhang Q, Wang J. Magnetic Resonance Imaging Findings in the Pregeniculate Visual Pathway in Leber Hereditary Optic Neuropathy. J Neuroophthalmol. 2022;42(1):e153-e158. https://doi.org/10.1097/WNO.0000000000001383
  37. Batioğlu F, Atilla H, Eryilmaz T. Chiasmal high signal on magnetic resonance imaging in the atrophic phase of leber hereditary optic neuropathy. J Neuroophthalmol. 2003;23(1):28-30.  https://doi.org/10.1097/00041327-200303000-00007
  38. Chow-Wing-Bom HT, Callaghan MF, Wang J, et al. Neuroimaging in Leber Hereditary Optic Neuropathy: State-of-the-art and future prospects. Neuroimage Clin. 2022;36:103240. https://doi.org/10.1016/j.nicl.2022.103240
  39. Sadun AA, Carelli V, Bose S, Ross-Cisneros FN, Barboni P, Ahrens ET. First application of extremely high-resolution magnetic resonance imaging to study microscopic features of normal and LHON human optic nerve. Ophthalmology. 2002;109(6):1085-1091. https://doi.org/10.1016/s0161-6420(02)01027-8
  40. Jonak K, Krukow P, Symms M, Maciejewski R, Grochowski C. Neuroanatomical Changes in Leber’s Hereditary Optic Neuropathy: Clinical Application of 7T MRI Submillimeter Morphometry. Brain Sci. 2020;10(6):359.  https://doi.org/10.3390/brainsci10060359
  41. Ott BR, Cohen RA, Gongvatana A, et al. Brain ventricular volume and cerebrospinal fluid biomarkers of Alzheimer’s disease. J Alzheimers Dis. 2010; 20(2):647-657.  https://doi.org/10.3233/JAD-2010-1406
  42. Tabrizi SJ, Reilmann R, Roos RA, et al. Potential endpoints for clinical trials in premanifest and early Huntington’s disease in the TRACK-HD study: analysis of 24 month observational data. Lancet Neurol. 2012;11(1):42-53.  https://doi.org/10.1016/S1474-4422(11)70263-0
  43. Blatter DD, Bigler ED, Gale SD, et al. MR-based brain and cerebrospinal fluid measurement after traumatic brain injury: correlation with neuropsychological outcome. AJNR Am J Neuroradiol. 1997;18(1):1-10. 
  44. Jančić J, Dejanović I, Radovanović S, et al. White Matter Changes in Two Leber’s Hereditary Optic Neuropathy Pedigrees: 12-Year Follow-Up. Ophthalmologica. 2016;235(1):49-56.  https://doi.org/10.1159/000441089
  45. 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-e127. https://doi.org/10.1212/WNL.0b013e3182a95698
  46. Van Westen D, Hammar B, Bynke G. Magnetic resonance findings in the pregeniculate visual pathways in Leber hereditary optic neuropathy. J Neuroophtalmol. 2011;31:48-51.  https://doi.org/10.1097/WNO.0b013e3181f3f203
  47. Phillips PH, Vaphiades M, Glasier CM, Gray LG, Lee AG. Chiasmal enlargement and optic nerve enhancement on magnetic resonance imaging in leber hereditary optic neuropathy. Arch Ophthalmol. 2003;121(4):577-579.  https://doi.org/10.1001/archopht.121.4.577
  48. Barnes D, McDonald WI, Landon DN, Johnson G. The characterization of experimental gliosis by quantitative nuclear magnetic resonance imaging. Brain. 1988;111(Pt 1):83-94.  https://doi.org/10.1093/brain/111.1.83
  49. Hegde AN, Mohan S, Lath N, Lim CC. Differential diagnosis for bilateral abnormalities of the basal ganglia and thalamus. Radiographics. 2011;31(1):5-30.  https://doi.org/10.1148/rg.311105041
  50. Kuker W, Weir A, Quaghebeur G, Palace J. White matter changes in Leber’s hereditary optic neuropathy: MRI findings. Eur J Neurol. 2007;14:591-593.  https://doi.org/10.1111/j.1468-1331.2007.01757.x
  51. Parry-Jones AR, Mitchell JD, Gunarwardena WJ, Shaunak S. Leber’s hereditary optic neuropathy associated with multiple sclerosis: Harding’s syndrome. Pract Neurol. 2008;8:118-121.  https://doi.org/10.1136/jnnp.2007.139360
  52. Lev D, Yanoov-Sharav M, Watemberg N, Leshinsky-Silver E, Lerman-Sagie T. White matter abnormalities in Leber’s hereditary optic neuropathy due to the 3460 mitochondrial DNA mutation. Eur J Paediatr Neurol. 2002; 6(2):121-123.  https://doi.org/10.1053/ejpn.2001.0558
  53. Barcella V, Rocca MA, Bianchi-Marzoli S, et al. Evidence for retrochiasmatic tissue loss in Leber’s hereditary optic neuropathy. Hum Brain Mapp. 2010;31(12):1900-1906. https://doi.org/10.1002/hbm.20985
  54. Tian Q, Wang L, Zhang Y, et al. Brain Gray Matter Atrophy and Functional Connectivity Remodeling in Patients With Chronic LHON. Front Neurosci. 2022;16:885770. https://doi.org/10.3389/fnins.2022.885770
  55. Grochowski C, Jonak K, Maciejewski M, Stępniewski A, Rahnama-Hezavah M. Alteration within the Hippocampal Volume in Patients with LHON Disease-7 Tesla MRI Study. J Clin Med. 2020;10(1):14. Epub 2020 Dec 23.  https://doi.org/10.3390/jcm10010014
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