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Relevant bibliographies by topics / Hereditary Optic Neuropathy

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Academic literature on the topic 'Hereditary Optic Neuropathy'

Author: Grafiati

Published: 3 June 2025

Last updated: 31 July 2025

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Journal articles on the topic "Hereditary Optic Neuropathy"

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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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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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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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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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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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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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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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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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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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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Dissertations / Theses on the topic "Hereditary Optic Neuropathy"

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Danielson, Steven Richard. "Apoptosis and transcriptomal alterations in Leber's Hereditary Optic Neuropathy /." For electronic version search Digital dissertations database. Restricted to UC campuses. Access is free to UC campus dissertations, 2004. http://uclibs.org/PID/11984.

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Iommarini, Luisa <1979&gt. "Molecular bases, pathogenic mechanisms and possible therapeutic approach in Leber's Hereditary Optic Neuropathy." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2009. http://amsdottorato.unibo.it/1626/1/Iommarini_Luisa_tesi.pdf.

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Leberâs hereditary optic neuropathy (LHON) is a mitochondrial disease characterized by a rapid loss of central vision and optic atrophy, due to the selective degeneration of retinal ganglion cells. The age of onset is around 20, and the degenerative process is fast and usually the second eye becomes affected in weeks or months. Even if this pathology is well known and has been well characterized, there are still open questions on its pathophysiology, such as the male prevalence, the incomplete penetrance and the tissue selectivity. This maternally inherited disease is caused by mutations i

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Iommarini, Luisa <1979&gt. "Molecular bases, pathogenic mechanisms and possible therapeutic approach in Leber's Hereditary Optic Neuropathy." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2009. http://amsdottorato.unibo.it/1626/.

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Leberâs hereditary optic neuropathy (LHON) is a mitochondrial disease characterized by a rapid loss of central vision and optic atrophy, due to the selective degeneration of retinal ganglion cells. The age of onset is around 20, and the degenerative process is fast and usually the second eye becomes affected in weeks or months. Even if this pathology is well known and has been well characterized, there are still open questions on its pathophysiology, such as the male prevalence, the incomplete penetrance and the tissue selectivity. This maternally inherited disease is caused by mutations i

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4

Harper, Lydia. "Living with leber hereditary optic neuropathy : exploring experiences and perceptions of a disruptive mitochondrial condition." Thesis, Cardiff University, 2018. http://orca.cf.ac.uk/120232/.

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This thesis explores the experiences and perceptions of people living with Leber hereditary optic neuropathy (LHON) and the healthcare professionals charged with diagnosing and treating the condition. LHON is the first disease linked to a mitochondrial mutation, characteristically resulting in bilateral sight loss over a period of 6‒12 weeks from the initial onset and predominantly (but not exclusively) affecting young men in their teens and early twenties. As with other mitochondrial conditions, there is currently no cure for LHON, and treatment options to slow the progress of the condition a

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Halas, Sohair. "WN1316, A Novel Anti-Oxidant Compound for the Treatment of Leber's Hereditary Optic Neuropathy (LHON)." Thesis, Université d'Ottawa / University of Ottawa, 2016. http://hdl.handle.net/10393/35144.

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Leber’s Hereditary Optic Neuropathy (LHON) is a devastating mitochondrial disorder that leads to irreversible blindness. A mutation in the mitochondrial ND4 gene causes the majority of cases. Oxidative stress plays a role in disease pathology. WN1316 is a small molecule compound with potent anti-oxidant properties. Using in vitro and in vivo assays, the effectiveness of WN1316 in the treatment of LHON was tested. In vitro, the neuroprotective effects of WN1316 were tested against the oxidative stressors menadione and H2O2. These studies showed that WN1316 can protect SH-SY5Y neuronal cells and

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Ågersten, Alexandra. "Diagnosis of Leber’s hereditary optic neuropathy (LHON) : analysis of MT-ND1, MT-ND4 and MT-ND6 in patients with LHON." Thesis, Uppsala University, Department of Medical Biochemistry and Microbiology, 2009. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-109492.

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<p>Leber´s hereditary optic neuropathy (LHON), a disease affecting vision, is caused by several point mutations in mitochondrial DNA. Mutations leading to a defect NADH ubiquinone oxidoreductase protein will affect the respiratory chain and cause a disturbed ATP production. It is still unknown why this defect leads to the degeneration of retinal ganglion cells and cells in the opticus nerve as well as demyelination of axons in these areas. Analysis of mitochondrial DNA is an important tool in the diagnosis of the disease. At the present time analysis is based on cleavage by restriction enzymes

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Chalmers, Richard Michael. "Studies of mitochondrial DNA and other factors in the aetiology of Leber's hereditary optic neuropathy and multiple sclerosis." Thesis, University of Oxford, 1996. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.337542.

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Nord, Emilia. "Optimization of a Multiplex PCR-RFLP Method Used for Detection of Three Primary Mutations in Leber’s Hereditary Optic Neuropathy Patients." Thesis, Uppsala universitet, Institutionen för kvinnors och barns hälsa, 2020. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-412744.

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Leber’s hereditary optic neuropathy (LHON) is the most commonly inherited disease that causes blindness in one or both eyes, with a minimum prevalence of 1 in 31 000 in the northeast of England. What causes LHON is not fully known but three mitochondrial mutations, G3460A, G11778A, and T14484C, have been identified in over 95 % of all LHON patients. To diagnose LHON, detection methods like sequencing, allele specific polymerase chain reaction and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) are used to identify these three mutations. The methods are now evolvin

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Evangelisti, Stefania <1989&gt. "Melanopsin Retinal Ganglion Cells in Patiens with Leber Hereditary Optic Neuropathy: an fMRI Study of Brain Activations under Monochromatic Light Stimulations." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2017. http://amsdottorato.unibo.it/8021/1/Evangelisti_Stefania_tesi.pdf.

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The current PhD thesis focused on a project that investigated brain responses to monochromatic light stimulation, as assessed by functional magnetic resonance imaging (fMRI), in a population of patients with Leber's hereditary optic neuropathy (LHON). In particular, the aim was to explore a possible role of melanopsin retinal ganglion cells (mRGCs) in visual processes and to assess their role in modulating brain responses during cognitive tasks, as in LHON patients it has been shown that mRGCs are relatively spared despite the general RGCs degeneration. Eleven LHON patients, and eleven matched

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Wassmer, Sarah. "The Effects of XIAP Gene Therapy in a Murine Model of Leber’s Hereditary Optic Neuropathy and a Feline Model of Retinal Detachment." Thesis, Université d'Ottawa / University of Ottawa, 2017. http://hdl.handle.net/10393/35774.

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In Canada alone, there were an estimated 800,000 visually impaired people in 2007, costing the federal government an annual amount of $15.8 billion in services, treatments and lost revenue. These costs are estimated to double by the year 2032, as the population ages. The leading causes of visual impairment and blindness is retinal degeneration, characterized by the progressive death of retinal cells. The research presented in this PhD thesis aimed to prevent retinal degeneration by over-expressing the X-linked Inhibitor of Apoptosis (XIAP) in retinal cells using plasmid and adeno-associated

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Books on the topic "Hereditary Optic Neuropathy"

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Parker, James N., and Philip M. Parker. Leber hereditary optic neuropathy: A bibliography and dictionary for physicians, patients, and genome researchers [to Internet references]. ICON Health Publications, 2007.

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2

Rudisill, Valerie Byrne. Born with a Bomb Suddenly Blind from Leber's Hereditary Optic Neuropathy. AuthorHouse, 2012.

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Book chapters on the topic "Hereditary Optic Neuropathy"

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Carey, Andrew R. "Hereditary Optic Neuropathy." In Controversies in Neuro-Ophthalmic Management. Springer International Publishing, 2021. http://dx.doi.org/10.1007/978-3-030-74103-7_9.

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Law, Nathan, Sumayya J. Almarzouqi, Michael L. Morgan, and Andrew G. Lee. "Leber Hereditary Optic Neuropathy." In Encyclopedia of Ophthalmology. Springer Berlin Heidelberg, 2015. http://dx.doi.org/10.1007/978-3-642-35951-4_1202-1.

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Wang, An-Guor. "Leber’s Hereditary Optic Neuropathy." In Emergency Neuro-ophthalmology. Springer Singapore, 2018. http://dx.doi.org/10.1007/978-981-10-7668-8_7.

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Law, Nathan, Sumayya J. Almarzouqi, Michael L. Morgan, and Andrew G. Lee. "Leber Hereditary Optic Neuropathy." In Encyclopedia of Ophthalmology. Springer Berlin Heidelberg, 2018. http://dx.doi.org/10.1007/978-3-540-69000-9_1202.

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Tian, Guohong, Xinghuai Sun, and Jihong Wu. "Leber Hereditary Optic Neuropathy." In Neuro-Ophthalmology. Springer Nature Singapore, 2022. http://dx.doi.org/10.1007/978-981-19-4668-4_8.

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Tian, Guohong, and Xinghuai Sun. "Other Hereditary Optic Neuropathy." In Neuro-Ophthalmology. Springer Nature Singapore, 2022. http://dx.doi.org/10.1007/978-981-19-4668-4_9.

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Chen, Harold. "Mitochondrial Leber Hereditary Optic Neuropathy." In Atlas of Genetic Diagnosis and Counseling. Springer New York, 2016. http://dx.doi.org/10.1007/978-1-4614-6430-3_158-2.

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Chen, Harold. "Mitochondrial Leber Hereditary Optic Neuropathy." In Atlas of Genetic Diagnosis and Counseling. Springer New York, 2017. http://dx.doi.org/10.1007/978-1-4939-2401-1_158.

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Al-Zubidi, Nagham, Kathryn McPherson, and Andrew G. Lee. "Toxic/Nutritional and Hereditary Optic Neuropathy." In Encyclopedia of Ophthalmology. Springer Berlin Heidelberg, 2015. http://dx.doi.org/10.1007/978-3-642-35951-4_528-1.

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Al-Zubidi, Nagham, Kathryn McPherson, and Andrew G. Lee. "Toxic/Nutritional and Hereditary Optic Neuropathy." In Encyclopedia of Ophthalmology. Springer Berlin Heidelberg, 2018. http://dx.doi.org/10.1007/978-3-540-69000-9_528.

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Conference papers on the topic "Hereditary Optic Neuropathy"

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Braga, Anna Carlinda Arantes de Almeida, Patryk Marques da Silva Rosa, Luiza Monteiro dos Santos, et al. "Optic Neuritis and its several etiologies." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.742.

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Introduction: Optic neuritis (ON) is characterized by a condition of the optic nerve´s demyelinating inflammation, unilateral or bilateral involvement, which can lead to painful visual loss, color blindness, and other neurological and systemic impairments. Because it has several etiologies, ON is underdiagnosed and the studies seek an integrative review to identify the causes and differential diagnoses for the proper management. Methods: An analysis of scientific publications in the Pubmed and ScienceDirect databases was realized using the descriptors Optic Neuritis and diagnosis. Results: The

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Reinert, Marie-Christine, David Pacheu Grau, Claudia B. Catarino, et al. "Sulthiame Impairs Mitochondrial Function In Vitro and May Trigger Onset of Visual Loss in Leber Hereditary Optic Neuropathy." In Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics. Georg Thieme Verlag KG, 2021. http://dx.doi.org/10.1055/s-0041-1739682.

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Newman, Nancy, Valerio Carelli, Patrick Yu-Wai-Man, et al. "Indirect Comparison of Lenadogene Nolparvovec Gene Therapy versus Natural History in m.11778G>A MT-ND4 Leber Hereditary Optic Neuropathy Patients (S12.005)." In 2023 Annual Meeting Abstracts. Lippincott Williams & Wilkins, 2023. http://dx.doi.org/10.1212/wnl.0000000000202502.

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Eszes, Kathryn, Lawrence Samkoff, and Jordan Bontrager. "Progressive Longitudinally Extensive Myelopathy following Stroke in a Patient later found to have m.14484T>C Mutation in Leber’s Hereditary Optic Neuropathy (LHON) gene. (P5-8.008)." In 2023 Annual Meeting Abstracts. Lippincott Williams & Wilkins, 2023. http://dx.doi.org/10.1212/wnl.0000000000202002.

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Reports on the topic "Hereditary Optic Neuropathy"

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Cherninkova, Sylvia, Boryana Zaharova, Radoslava Saraeva, et al. Leber’s Hereditary Optic Neuropathy in Bulgarian Patients. "Prof. Marin Drinov" Publishing House of Bulgarian Academy of Sciences, 2020. http://dx.doi.org/10.7546/crabs.2020.01.16.

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