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Journal articles on the topic 'Hereditary Optic Neuropathy'

Author: Grafiati

Published: 3 June 2025

Last updated: 31 July 2025

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1

BİNGÖL KIZILTUNÇ, Pınar. "Hereditary Optic Neuropathies." Güncel Retina Dergisi (Current Retina Journal) 9, no. 1 (2024): 81–88. http://dx.doi.org/10.37783/crj-0440.

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Hereditary optic neuropathies are a rare disease group, and Leber's Hereditary Optic Neuropathy (LHON), Dominant Optic Atrophy (DOA) and Recessive Optic Atrophies are included in this disease group. These diseases may be isolated or accompanied by other systemic disorders. Leber's Hereditary Optic Neuropathy is the most common hereditary mitochondrial disease. Leber's Hereditary Optic neuropathy presents with acute-subacute, painless vision loss in the 2nd-3rd decade of life, and the other eye is usually affected within 6-8 weeks. Dominant Optic Atrophy is the most common hereditary optic neur

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2

Rościszewska-Żukowska, Iwona, and Halina Bartosik-Psujek. "Demyelinating or hereditary optic neuropathy? Comparison of selected disease entities." Aktualności Neurologiczne 20, no. 2 (2020): 82–87. http://dx.doi.org/10.15557/an.2020.0011.

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The paper discusses retrobulbar optic neuritis secondary to multiple sclerosis, Leber’s hereditary optic neuropathy, and Leber’s hereditary optic neuropathy with multiple sclerosis-like disease – Harding’s syndrome. Retrobulbar optic neuritis secondary to multiple sclerosis is the most common disease (neuropathy) of the optic nerve in young adults and often the first clinical manifestation of multiple sclerosis. Despite a characteristic triad of symptoms and evident focal demyelination in brain magnetic resonance, misdiagnoses still occur. Leber’s hereditary optic neuropathy (atrophy) is a gen

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3

Gan, Dekang, Mengwei Li, Jihong Wu, Xinghuai Sun, and Guohong Tian. "Analysis of Genetic Mutations in a Cohort of Hereditary Optic Neuropathy in Shanghai, China." Journal of Ophthalmology 2017 (2017): 1–5. http://dx.doi.org/10.1155/2017/6186052.

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Purpose. To evaluate the clinical classification and characteristics of hereditary optic neuropathy patients in a single center in China. Method. Retrospective case study. Patients diagnosed with hereditary optic neuropathy between January 2014 and December 2015 in the neuro-ophthalmology division in Shanghai Eye and ENT Hospital of Fudan University were recruited. Clinical features as well as visual field, brain/orbital MRI, and spectrum domain optical coherence tomography (SD-OCT) were analyzed. Results. Eighty-two patients diagnosed by gene test were evaluated, including 66 males and 16 fem

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4

Low, Adeline, Yee Ling Neoh, Siu Wan Foo, and Azida J. Kadir. "Leber’s hereditary optic neuropathy." Malaysian Journal of Ophthalmology 2, no. 4 (2020): 281–87. http://dx.doi.org/10.35119/myjo.v2i4.88.

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Leber’s hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disease caused by several point mutations in mitochondrial DNA. We present the case of a healthy 12-year-old Chinese boy who presented with bilateral, painless, subacute loss of central vision (more severe in the left eye the than right eye) for 1 week. No abnormalities were detected on magnetic resonance imaging of the brain and orbit. Serial Humphrey visual field tests initially showed a centrocaecal scotoma that worsened progressively. Cerebrospinal fluid samples and blood investigations showed normal results

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5

Volpe, Nicholas J., та Simmons Lessell. "Leberʼs Hereditary Optic Neuropathy". International Ophthalmology Clinics 33, № 2 (1993): 153–68. http://dx.doi.org/10.1097/00004397-199303320-00015.

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6

Hudson, Gavin, Patrick Yu-Wai-Man, and Patrick F. Chinnery. "Leber hereditary optic neuropathy." Expert Opinion on Medical Diagnostics 2, no. 7 (2008): 789–99. http://dx.doi.org/10.1517/17530059.2.7.789.

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7

Kolářová, Hana, Tomáš Honzík, Ľubica Ďuďáková, et al. "Leber Hereditary Optic Neuropathy." Česká a slovenská neurologie a neurochirurgie 80/113, no. 5 (2017): 534–44. http://dx.doi.org/10.14735/amcsnn2017534.

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8

Man, P. Y. W. "Leber hereditary optic neuropathy." Journal of Medical Genetics 39, no. 3 (2002): 162–69. http://dx.doi.org/10.1136/jmg.39.3.162.

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9

Murray, Jared J., Kaitlyn W. Nolan, Collin McClelland, and Michael S. Lee. "Leber Hereditary Optic Neuropathy." Journal of Neuro-Ophthalmology 37, no. 2 (2017): 166–71. http://dx.doi.org/10.1097/wno.0000000000000462.

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10

Nikoskelainen, Eeva K. "Leber hereditary optic neuropathy." Current Opinion in Ophthalmology 2, no. 5 (1991): 531–37. http://dx.doi.org/10.1097/00055735-199110000-00003.

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11

Jurkute, Neringa, and Patrick Yu-Wai-Man. "Leber hereditary optic neuropathy." Current Opinion in Ophthalmology 28, no. 5 (2017): 403–9. http://dx.doi.org/10.1097/icu.0000000000000410.

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12

Cherninkova, S. "Leber’s hereditary optic neuropathy." Bulgarian Review of Ophthalmology 61, no. 2 (2017): 41. http://dx.doi.org/10.14748/bro.v0i2.4514.

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13

Johns, Donald R., Kyle H. Smith, Peter J. Savino, and Neil R. Miller. "Leber's Hereditary Optic Neuropathy." Ophthalmology 100, no. 7 (1993): 981–86. http://dx.doi.org/10.1016/s0161-6420(93)31527-7.

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14

Kerrison, John B., Neil Howell, Neil R. Miller, Lawrence Hirst, and W. Richard Green. "Leber Hereditary Optic Neuropathy." Ophthalmology 102, no. 10 (1995): 1509–16. http://dx.doi.org/10.1016/s0161-6420(95)30838-x.

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15

Sadun, Alfredo A., and Federico Sadun. "Leber Hereditary Optic Neuropathy." Ophthalmology 103, no. 2 (1996): 201–2. http://dx.doi.org/10.1016/s0161-6420(96)30718-5.

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16

Bi, Rui, A. Mei Zhang, and Yong-Gang Yao. "Leber's Hereditary Optic Neuropathy." Ophthalmology 118, no. 7 (2011): 1489–1489. http://dx.doi.org/10.1016/j.ophtha.2011.04.007.

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17

Mazunin, I. O., and N. V. Volodko. "Leber hereditary optic neuropathy." Vestnik oftal'mologii 134, no. 2 (2018): 92. http://dx.doi.org/10.17116/oftalma2018134292-96.

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18

Jay, Barrie. "Leber's hereditary optic neuropathy." Eye 4, no. 3 (1990): vii. http://dx.doi.org/10.1038/eye.1990.52.

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19

AA, Sadun. "Leber Hereditary Optic Neuropathy." Journal of Neuro-Ophthalmology 17, no. 1 (1997): 72. http://dx.doi.org/10.1097/00041327-199703000-00017.

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20

Sadun, Alfredo A., Chiara La Morgia, and Valerio Carelli. "Leber’s Hereditary Optic Neuropathy." Current Treatment Options in Neurology 13, no. 1 (2010): 109–17. http://dx.doi.org/10.1007/s11940-010-0100-y.

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21

Hirano, Michio, and Salvatore DiMauro. "Leber Hereditary Optic Neuropathy." Archives of Neurology 62, no. 5 (2005): 711. http://dx.doi.org/10.1001/archneur.62.5.711.

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22

Johns, Donald R. "Leber's Hereditary Optic Neuropathy." Archives of Ophthalmology 111, no. 4 (1993): 495. http://dx.doi.org/10.1001/archopht.1993.01090040087038.

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23

Johns, Donald R. "Leber's Hereditary Optic Neuropathy." Archives of Ophthalmology 110, no. 11 (1992): 1577. http://dx.doi.org/10.1001/archopht.1992.01080230077025.

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24

Newman, Nancy J. "Leber's Hereditary Optic Neuropathy." Archives of Neurology 50, no. 5 (1993): 540. http://dx.doi.org/10.1001/archneur.1993.00540050082021.

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25

Beganovic, Allen, and Vladislav Dzinic. "Leber’s Hereditary Optic Neuropathy." Medical Archives 79, no. 3 (2025): 241. https://doi.org/10.5455/medarh.2025.79.241-248.

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Background: Leber’s hereditary optic neuropathy (LHON) is the most common maternally inherited disease linked to mitochondrial DNA (mtDNA). The patients present with subacute asymmetric bilateral vision loss. It is a rare disease that typically affects young adults–men more than women–and is a relatively common cause of blindness. The majority (more than 95%) of patients have one of three mtDNA point mutations: m.14484T→C, m.3460G→A, or m.11778G→A.The hallmark of hereditary optic neuropathies determined by mitochondrial dysfunction is the vulnerability and degeneration of retinal ganglion cell

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26

McClelland, Collin M., Gregory P. Van Stavern, and Alex C. Tselis. "Leber Hereditary Optic Neuropathy Mimicking Neuromyelitis Optica." Journal of Neuro-Ophthalmology 31, no. 3 (2011): 265–68. http://dx.doi.org/10.1097/wno.0b013e318225247b.

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27

Teive, Hélio Afonso Ghizoni, André Ribeiro Troiano, Salmo Raskin, and Lineu César Werneck. "Leber's hereditary optic neuropathy: case report and literature review." Sao Paulo Medical Journal 122, no. 6 (2004): 276–79. http://dx.doi.org/10.1590/s1516-31802004000600010.

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CONTEXT: Leber's hereditary optic neuropathy is an important cause of progressive painless visual loss among young male patients. OBJECTIVE: To report on a case of a young patient with a clinical and neurophysiological condition suggestive of Leber's hereditary optic neuropathy, confirmed by genetic testing. CASE REPORT: We describe a 17-year-old male with progressive bilateral visual loss. Two maternal uncles had had similar patterns of visual loss. The patient had a history of smoking and alcohol abuse. Neuro-ophthalmological examination revealed visual acuity of 20/800 in both eyes, with de

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28

Hashemi, Nafiseh, Sushma S. Yalamanchili, Jason Zhang, and Andrew G. Lee. "Leber Hereditary Optic Neuropathy Mimicking Thyroid-Related Optic Neuropathy." Journal of Neuro-Ophthalmology 32, no. 1 (2012): 95–96. http://dx.doi.org/10.1097/wno.0b013e318246d98d.

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29

Hwang, Jeong-Min, Jiyeon Kim, and Sung Sup Park. "Leber's hereditary optic neuropathy mutations in ethambutol-induced optic neuropathy." Journal of Neurology 250, no. 1 (2003): 87–89. http://dx.doi.org/10.1007/s00415-003-0960-0.

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30

Ohden, Kaitlyn L., Peter H. Tang, Chrystia C. Lilley, and Michael S. Lee. "Atypical Leber Hereditary Optic Neuropathy." Journal of Neuro-Ophthalmology 36, no. 3 (2016): 304. http://dx.doi.org/10.1097/wno.0000000000000346.

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31

Yen, Michael T., and Byron L. Lam. "Update on Hereditary Optic Neuropathy." Seminars in Ophthalmology 14, no. 2 (1999): 74–80. http://dx.doi.org/10.3109/08820539909056067.

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32

Abdul Malik Hayat, Muhammad Imran Khan, Saman Chaudhary, Verda Ashraf, Asma Ashraf, and Mehwish Nizam. "MRI Findings in Leber’s Hereditary Optic Neuropathy: A case report." International Journal of Multidisciplinary Research Updates 6, no. 2 (2023): 059–62. http://dx.doi.org/10.53430/ijmru.2023.6.2.0073.

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Background: Leber’s hereditary optic neuropathy (LHON) is a rare genetic condition which is mainly presented with painless, sub-acute central unilateral vision loss followed by contralateral vision loss after few weeks to months. Young adults are typically affected with men preponderance. Relatively, it is a common cause of blindness as a result of mutation in mitochondrial DNA (mtDNA). Case report: We reported the case of two brothers, who had recent history of vision loss. Fundoscopy examination revealed bilateral optic nerve atrophy along with vessel narrowing and absent macular reflex. We

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33

DALDAL, Hatice, and Ramazan BİRGÜL. "Anterior Optic Neuropathies without Optic Disc Edema." Güncel Retina Dergisi (Current Retina Journal) 9, no. 2 (2024): 140–51. http://dx.doi.org/10.37783/crj-0448.

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Anterior optic neuropathies in which the optic discs appear normal include nutritional optic neuropathy, vitamin B12 or folate deficiencies, toxic optic neuropathy due to drugs and heavy metals, and hereditary optic neuropathy. When these conditions become chronic, optic atrophy can occur. Treatment of these diseases, which can cause dramatic vision loss, should be done quickly and permanent neuronal damage should be prevented as much as possible. Therefore, this group of diseases should always be kept in mind by clinicians in cases of unexplained visual loss.

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34

Li, John-Michael, and Janet C. Rucker. "Irreversible Optic Neuropathy in Wernicke Encephalopathy and Leber Hereditary Optic Neuropathy." Journal of Neuro-Ophthalmology 30, no. 1 (2010): 49–53. http://dx.doi.org/10.1097/wno.0b013e3181ce80c6.

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35

Zhang, Yong, Jia-jia Yuan, Hong-li Liu, Zhen Tian, Si-wei Liu, and Bin Li. "Three Cases of Leber’s Hereditary Optic Neuropathy with Rapid Increase in Visual Acuity After Gene Therapy." Current Gene Therapy 19, no. 2 (2019): 134–38. http://dx.doi.org/10.2174/1566523219666190618094505.

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Background: During the first few trials of gene therapy for Leber’s hereditary optic neuropathy performed by our group, the visual acuity of the patients increased gradually over several months, or even years. However, in the current round of gene therapy for Leber’s hereditary optic neuropathy, we noted that the visual acuity of three patients increased rapidly, within a few days after treatment. Case presentation: Three patients who were diagnosed with mitochondrial gene 11778 mutation (associated with a G-to-A transition at Mt-11778 in the ND4 subunit gene of complex I of mitochondrial DNA

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36

Wakakura, Masato, Asako Mogi, Yoshiaki Ichibe, Keiko Okada, and Haruyuki Hasebe. "Leber's hereditary optic neuropathy triggered by optic neuritis." Neuro-Ophthalmology 16, no. 6 (1996): 337–41. http://dx.doi.org/10.3109/01658109609044637.

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37

Kotov, Sergey V., Olga P. Sidorova, Elena V. Borodataya, Irina A. Vasilenko, and Alexander V. Borodin. "Clinical observations of Leber hereditary optic neuropathy with and without neurological symptoms." Annals of Clinical and Experimental Neurology 16, no. 1 (2022): 59–63. http://dx.doi.org/10.54101/acen.2022.1.8.

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Three case studies of adults with Leber hereditary optic neuropathy with and without neurological symptoms are presented. An elevated blood lactate level and changes in the activity of the mitochondrial enzymes in peripheral blood lymphocytes were noted. Mutations in the mitochondrial DNA (G3460A in one patient and G11778A in two patients) were found. The patient with a G3460A mutation, in addition to reduced visual acuity, was diagnosed with a cerebellar disorder due to cerebellar vermis hypoplasia. These changes are indications for prescribing energotropic drugs (idebenone, carnitine); carno

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38

Sadun, Alfredo, Michael Ammar, Jasdeep Chahal, and Rustum Karanjia. "Treatment of Leber’s Hereditary Optic Neuropathy." Current Pharmaceutical Design 23, no. 4 (2017): 624–28. http://dx.doi.org/10.2174/1381612823666170125164856.

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39

Khetan, Vikas, Mario Zanolli, and Alex V. Levin. "Acute Bilateral Leber Hereditary Optic Neuropathy." Journal of Pediatric Ophthalmology & Strabismus 52, no. 4 (2015): 256. http://dx.doi.org/10.3928/01913913-20150709-01.

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40

Majander, Anna, Richard Bowman, Joanna Poulton, et al. "Childhood-onset Leber hereditary optic neuropathy." British Journal of Ophthalmology 101, no. 11 (2017): 1505–9. http://dx.doi.org/10.1136/bjophthalmol-2016-310072.

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41

Newman, N. J. "Treatment of Leber hereditary optic neuropathy." Brain 134, no. 9 (2011): 2447–50. http://dx.doi.org/10.1093/brain/awr192.

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42

Gueven, N. "Idebenone for Leber's hereditary optic neuropathy." Drugs of Today 52, no. 3 (2016): 173. http://dx.doi.org/10.1358/dot.2016.52.3.2463564.

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43

Iorga, Raluca Eugenia, Ruxandra Mihailovici, Manuela Ramona Ozturk, and Dănuţ Costin. "Leber’s hereditary optic neuropathy - Case report." Romanian Journal of Ophthalmology 62, no. 1 (2018): 64–71. http://dx.doi.org/10.22336/rjo.2018.9.

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44

Culea, Cristina, Bogdana Tăbăcaru, Simona Stanca, and Horia Tudor Stanca. "Leber’s Hereditary Optic Neuropathy – Case Discussion." romanian journal of ophthalmology 63, no. 1 (2019): 91–101. http://dx.doi.org/10.22336/rjo.2019.14.

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45

Demidenko, Alexander, Roya Vakili, Eric R. Eggenberger, and David I. Kaufman. "Late onset Leber's Hereditary Optic Neuropathy." Neuro-Ophthalmology 32, no. 1 (2008): 41–42. http://dx.doi.org/10.1080/01658100701619372.

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46

Apinyawasisuk, Supanut, Jane W. Chan, and Anthony C. Arnold. "Trauma-Associated Leber Hereditary Optic Neuropathy." Neuro-Ophthalmology 40, no. 4 (2016): 192–96. http://dx.doi.org/10.1080/01658107.2016.1183682.

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47

Yen, May-Yung, and Yau-Huei Yau-Huei Wei. "Leber's hereditary optic neuropathy – update review." Neuro-Ophthalmology 26, no. 1 (2001): 23–34. http://dx.doi.org/10.1076/noph.26.1.23.8053.

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48

Mackey, David. "Misconceptions about Leber hereditary optic neuropathy." Medical Journal of Australia 160, no. 12 (1994): 763–66. http://dx.doi.org/10.5694/j.1326-5377.1994.tb125944.x.

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49

Redmill, Brian, Anthony Mutamba, and Mike Tandon. "Leber's hereditary optic neuropathy following trauma." Eye 15, no. 4 (2001): 544–47. http://dx.doi.org/10.1038/eye.2001.172.

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50

Newman, Nancy J., and Douglas C. Wallace. "Mitochondria and Leber's Hereditary Optic Neuropathy." American Journal of Ophthalmology 109, no. 6 (1990): 726–30. http://dx.doi.org/10.1016/s0002-9394(14)72445-6.

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