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Dissertations / Theses on the topic 'Hereditary Optic Neuropathy'

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Published: 3 June 2025

Last updated: 31 July 2025

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1

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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2

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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5

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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6

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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7

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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8

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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9

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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10

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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11

Amaral, Fernandes Marcela Scabello 1969. "Análise comparativa clínica e molecular da neuropatia óptica hereditária de Leber (LHON)." [s.n.], 2013. http://repositorio.unicamp.br/jspui/handle/REPOSIP/308881.

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Orientador: Edi Lucia Sartorato<br>Tese (doutorado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas<br>Made available in DSpace on 2018-08-23T07:24:23Z (GMT). No. of bitstreams: 1 AmaralFernandes_MarcelaScabello_D.pdf: 2548021 bytes, checksum: 4a1e103fa460381f99df5a845fdfec67 (MD5) Previous issue date: 2013<br>Resumo: A neuropatia óptica hereditária de Leber (LHON) é uma doença mitocondrial, com herança materna, caracterizada pela perda (sub) aguda, indolor e bilateral da visão, escotoma central ou cecocentral e discromatopsia, devido à degeneração do nervo óptico por apop

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12

Kervinen, M. (Marko). "Membranous core domain of Complex I and mitochondrial disease modeling." Doctoral thesis, University of Oulu, 2006. http://urn.fi/urn:isbn:9514281187.

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Abstract Human mitochondria contain a circular genome called mitochondrial DNA (mtDNA). It encodes subunits of the respiratory chain enzymes involved in energy conservation in oxidative phosphorylation and the necessary RNA needed for their expression. Errors in these genes have been shown to cause diseases, called mitochondrial diseases, which mainly affect tissues with high energy-demand, such as brain, heart, and skeletal muscle, or to lead to the production of harmful by-products in the form of reactive oxygen species (ROS) during cellular respiration. ROS damage lipids, proteins, and DNA,

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13

Chao, de la Barca Juan Manuel. "Approche métabolomique des maladies dégénératives de la rétine et du nerf optique. : neuropathie optique héréditaire de Leber, athropie optique dominante et préconditionnement rétinien induit par la lumière The metabolomic signature of Leber's hereditary optic neuropathy reveals endoplasmic reticulum stress Metabolic signature of remote ischemic preconditioning involving a cocktail of amino acids and biogenic amines." Thesis, Angers, 2016. http://www.theses.fr/2016ANGE0069.

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Nous avons réalisé une approche métabolomique ciblée par spectrométrie de masse, avec quantification de 188 métabolites incluant des lipides et des molécules polaires. Trois processus physiopathologiques en rapport avec la rétine et le nerf optique ont été étudiés : la neuropathie optique héréditaire de Leber (NOHL), l’atrophie optique autosomique dominante (AOD) par haplo-insuffisance du gène OPA1 et le préconditionnement rétinien induit par la lumière (PRIL). Les principaux résultats sont : Projet NOHL : Le pool des acides aminés et la concentration de certaines sphingomyélines (SM) sont dim

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14

Pätsi, J. (Jukka). "Catalytic core of respiratory chain NADH-ubiquinone oxidoreductase:roles of the ND1, ND6 and ND4L subunits and mitochondrial disease modelling in Escherichia coli." Doctoral thesis, Oulun yliopisto, 2011. http://urn.fi/urn:isbn:9789514294723.

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Abstract NADH-ubiquinone oxidoreductase (complex I) is one of the largest enzymes in mammals. Seven (ND1-ND6 and ND4L) of its 45 subunits are encoded in mitochondrial DNA, mutations of which are usually behind mitochondrial diseases such as Leber hereditary optic neuropathy (LHON) and MELAS-syndrome. The rest of the genes are located in the nucleus. Bacterial homologs of complex I (NDH-1) consist of only 13–14 subunits, comprising the catalytic core of the enzyme. These complexes are simpler but perform a similar function. Escherichia coli NDH-1 was employed here to generate amino acid r

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15

Jäder, Klara. "Optimization of a multiplex ARMS-PCR for detection of the primary mutations causing Leber’s hereditary optic neuropath." Thesis, Uppsala universitet, Institutionen för kvinnors och barns hälsa, 2020. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-413665.

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Leber’s hereditary optic neuropathy (LHON) is a genetic disease that causes the patients to become blind, first in one eye and then the other, around the ages of 10-75 years. The disease is caused by mutations in the mitochondrial DNA, which disturbs the respiratory chain leading to the deterioration of the retinal ganglion cells. This study’s aim is to optimize a multiplex amplification-refractory mutation system PCR for detection of three primary mutations causing LHON. This was done through a series of PCRs, including PCR aimed at the ß-globin gene, conventional simplex PCR and a simplex AR

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16

Miranda, Paulo Maurício do Amôr Divino 1982. "Estudo molecular da neuropatia optica hereditaria de Leber em pacientes brasileiros." [s.n.], 2010. http://repositorio.unicamp.br/jspui/handle/REPOSIP/316703.

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Orientadores: Edi Lucia Sartorato, Andrea Trevas Maciel-Guerra<br>Dissertação (mestrado) - Universidade Estadual de Campinas, Instituto de Biologia<br>Made available in DSpace on 2018-08-15T16:54:52Z (GMT). No. of bitstreams: 1 Miranda_PauloMauriciodoAmorDivino_M.pdf: 2620124 bytes, checksum: aacc629866a9ff7880f48f266f4f3743 (MD5) Previous issue date: 2010<br>Resumo: Nos seres humanos, a visão é o sentido que retrata com melhor fidelidade o ambiente que os cerca. A ausência do sentido da visão é definida como cegueira. As conseqüências da cegueira são problemas de saúde pública importantes,

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17

Amorim, Simone Consuelo de. "Estudo da condução nervosa em pacientes com a síndrome SPOAN." Universidade de São Paulo, 2013. http://www.teses.usp.br/teses/disponiveis/5/5138/tde-05112013-154543/.

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Introdução: A síndrome SPOAN é uma doença neurodegenerativa, de transmissão genética autossômica recessiva, até o momento reconhecida apenas no Brasil, que caracteriza-se por: paraplegia espástica, de início nos primeiros anos de vida e caráter progressivo; atrofia óptica congênita; neuropatia periférica sensitivo-motora axonal, de início a partir da primeira década de vida; sobressaltos à estimulação sonora, disartria, deformidades de coluna e pés e sinais extra piramidais. A sua caracterização foi feita por nosso grupo, que avaliou clinicamente 71 indivíduos, originários do Rio Grande do Nor

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18

Miranda, Paulo Maurício do Amôr Divino 1982. "Alterações mitocondriais e nucleares associadas à neuropatia óptica." [s.n.], 2014. http://repositorio.unicamp.br/jspui/handle/REPOSIP/316698.

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Orientador: Edi Lúcia Sartorato<br>Tese (doutorado) - Universidade Estadual de Campinas, Instituto de Biologia<br>Made available in DSpace on 2018-08-25T22:58:29Z (GMT). No. of bitstreams: 1 Miranda_PauloMauriciodoAmorDivino_D.pdf: 3949549 bytes, checksum: 8cd1e0647087ac34cd2bc0ed5d096d0b (MD5) Previous issue date: 2014<br>Resumo: A Neuropatia Óptica Hereditária de Leber (LHON) e a Atrofia Óptica Autossômica Dominante (ADOA ou OPA1) são doenças caracterizadas pela perda da visão bilateral, devido a uma degeneração do nervo óptico. Ambas as doenças apresentam também acuidade visual reduzida,

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19

Graciani, Zódja. "Caracterização motora e funcional da paraplegia espástica, atrofia óptica e neuropatia periférica (síndrome Spoan)." Universidade de São Paulo, 2009. http://www.teses.usp.br/teses/disponiveis/5/5138/tde-22032010-172509/.

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Introdução: A síndrome Spoan é uma forma de paraplegia espástica complicada de herança recessiva recentemente identificada em indivíduos originários do sudoeste do estado do Rio Grande do Norte. O quadro clínico é caracterizado por atrofia óptica congênita, paraplegia crural espástica de caráter progressivo e neuropatia axonal levando a perda da função motora em membros superiores. A caracterização fenotípica dessa doença não está completa, e não foram realizados estudos quantitativos e funcionais, que poderiam mensurar a intensidade e contribuir para a definição de uma estratégia de reabilita

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20

Fonseca, Maria Inês Arêlo Manso da. "Functional Investigation of OXPHOS assembly factors in Leber’s Hereditary Optic Neuropathy." Master's thesis, 2016. http://hdl.handle.net/10316/34047.

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FONSECA, Maria Inês Arêlo Manso da - Functional Investigation of OXPHOS assembly factors in Leber’s Hereditary Optic Neuropathy. Coimbra : [s.n.], 2016. Dissertação de Mestrado<br>Mitochondrial cytopathies comprise a heterogeneous group of multisystem disorders related to mitochondrial dysfunction and deficiency in ATP production. The tissues more susceptible to this impairment are those that require more energy for their maintenance and function, such as the nervous system having a higher number of mitochondria per cell. The energy dysfunction may occur in one or more complexes of the mitocho

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21

Jankauskaite, Elona. "Effects of sex hormones on cell death in cells with mutations responsible for Leber’s hereditary optic neuropathy." Doctoral thesis, 2019. https://depotuw.ceon.pl/handle/item/3475.

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Leber’s hereditary optic neuropathy (LHON) is a maternally inherited form of incurable bilateral and painless vision loss due to isolated atrophy of the optic nerve caused by point mutations in mitochondrial DNA (mtDNA). LHON occurs mostly in young men affecting both eyes simultaneously or sequentially in a period of a few months or weeks with usually very poor visual prognosis. It is estimated that 1 in 20,000 individuals in Europe are affected with this disease. The most common three mtDNA point mutations account for over 90% of diagnosed LHON cases: m.11778G>A, m.3460G>A and m.14484T>C. In

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22

Wu, You-Ren, and 吳祐任. "Pathogenic Investigation of Leber’s Hereditary Optic Neuropathy: Using Patient-Specific iPSCs-derived Retinal Ganglion Cells as a Diseased Platform." Thesis, 2017. http://ndltd.ncl.edu.tw/handle/8z523p.

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碩士<br>國立陽明大學<br>藥理學研究所<br>105<br>Leber’s hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disease caused by homoplasmic point mutations in Complex I subunit genes of mitochondrial DNA. LHON is characterized by incomplete penetrance, as only part of Complex I mutation carriers become affected. Therefore, the mitochondrial DNA mutation is necessary, but not sufficient to cause optic neuropathy. Multiple factors were considered for explaining its variable penetrance, such as environmental triggers and genetic modifying factors. However, the mechanism of low penetrance of

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23

Lu, Pin-Chen, and 盧品蓁. "Study on the regulation of mitochondrial transport in human iPSC-derived retinal ganglion cells of Leber’s hereditary optic neuropathy." Thesis, 2018. http://ndltd.ncl.edu.tw/handle/tp2jd9.

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24

Kodroń, Agata. "Podłoże molekularne dziedzicznej neuropatii wzrokowej Lebera." Doctoral thesis, 2015. https://depotuw.ceon.pl/handle/item/1199.

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Streszczenie Mitochondria to organelle komórkowe odpowiedzialne za produkcję energii podczas oddychania komórkowego. Zawierają one własny, kolisty DNA długości około 16569pz. Choroby mitochondrialne są zróżnicowaną grupą wieloukładowych zaburzeń wynikających z dysfunkcyjnej fosforylacji oksydacyjnej spowodowanej mutacjami w jądrowym lub mitochondrialnym DNA (mtDNA). Dziedziczna neuropatia nerwu wzrokowego Lebera (LHON) jest najczęstszą chorobą mitochondrialną. Charakteryzuje się nagłą, bezbolesną utratą wzroku związaną z zaburzeniami nerwu wzrokowego. Mężczyźni chorują dużo częście

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25

Nadikudi, M. "Novel short-chain quinones against mitochondrial dysfunction." Thesis, 2019. https://eprints.utas.edu.au/31792/1/Nadikudi_whole_thesis.pdf.

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Mitochondria regulate crucial cellular processes such as energy production in the form of adenosine triphosphate (ATP), Ca\(^{2+}\) homeostasis, cellular redox status and cell death. Consequently, cells and tissues that depend on these functions are susceptible to mitochondrial dysfunction. Any insult or genetic predisposition that leads to mitochondrial dysfunction can lead to a range of disorders that can manifest in many different tissues. Mitochondrial diseases, caused by mutations in mitochondrial DNA typically demonstrate severe neurological pathologies. These disorders are usually assoc

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Kolářová, Hana. "Studium vývojových,biochemických a molekulárních aspektů vybraných vzácných onemocnění v dětském věku." Doctoral thesis, 2018. http://www.nusl.cz/ntk/nusl-375107.

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Inborn errors of metabolism represent a heterogenous group of rare conditions, most having an incidence of less than 1 in 100,000 births. Because of their low prevalence, they are on the margin of attention of general research and even more so of large pharmaceutical companies. Study of rare diseases is the only way to design therapeutic options in order to improve quality of life of affected patients. Present Thesis particularly focuses on disturbances in mitochondrial energy metabolism. The main goals were the characterization of mitochondrial biogenesis within foetal development, as well as

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27

Haroon, Mohammad Fahad [Verfasser]. "Leber's hereditary optic neuropathy (LHON) : involvement of mitochondrial permeability transition in the pathogenesis and protective actions of minocycline / von Mohammad Fahad Haroon." 2008. http://d-nb.info/992713846/34.

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Dias, José Miguel Ferreira Coelho. "Relatórios de Estágio e Monografia intitulada “A Disfunção Mitocondrial nas Doenças Raras”." Master's thesis, 2020. http://hdl.handle.net/10316/93013.

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Relatório de Estágio do Mestrado Integrado em Ciências Farmacêuticas apresentado à Faculdade de Farmácia<br>A neuropatia hereditária de Leber é uma doença genética mitocondrial rara que se carateriza por uma diminuição severa da acuidade visual, indolor e bilateral (em 25% dos casos), consequente da degeneração das células ganglionares da retina. Embora esta seja a manifestação mais comum, existem outras patologias associadas a esta neuropatia, tais como, arritmias cardíacas, neuropatias periféricas, distonia e mioclonia, podendo estar ainda associados alguns distúrbios neurológicos.A neuropat

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