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Leber's hereditary optic

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https://www.readbyqxmd.com/read/29337205/increasing-mtdna-levels-as-therapy-for-mitochondrial-optic-neuropathies
#1
Eduardo Ruiz-Pesini, Sonia Emperador, Ester López-Gallardo, Carmen Hernandez-Ainsa, Julio Montoya
Leber hereditary optic neuropathy (LHON) is a rare, inherited mitochondrial disease. No treatment has shown a clear-cut benefit on a clinically meaningful end-point. Primary open-angle glaucoma is a frequent, acquired optic neuropathy. Lowering intraocular pressure reduces disease progression. However, current methods to decelerate this progression are recognized as being inadequate. Therefore, there is a clear need to look for new therapeutic approaches. The growing evidence indicates that primary open-angle glaucoma can also be a mitochondrial optic neuropathy (MON)...
January 11, 2018: Drug Discovery Today
https://www.readbyqxmd.com/read/29300239/mri-of-the-optic-nerves-and-chiasm-in-patients-with-leber-hereditary-optic-neuropathy
#2
Christelle Blanc, Françoise Heran, Christophe Habas, Yannick Bejot, José Sahel, Catherine Vignal-Clermont
BACKGROUND: The aim of this study was to characterize brain and orbital MRI features of patients with Leber hereditary optic neuropathy (LHON), with particular attention to the optic nerves and chiasm. METHOD: We studied a patient cohort with genetically confirmed LHON followed at 2 ophthalmologic hospitals in France between 2013 and 2015. High-resolution brain and orbital MRI studies were analyzed for each patient during the first 12 months after the onset of visual loss was analyzed...
January 3, 2018: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
https://www.readbyqxmd.com/read/29284658/teaching-neuroimages-leber-hereditary-optic-neuropathy-masquerading-as-neuromyelitis-optica
#3
Roman Kassa, Flavius Raslau, Charles Smith, Padmaja Sudhakar
No abstract text is available yet for this article.
January 2, 2018: Neurology
https://www.readbyqxmd.com/read/29260500/baseline-demographics-clinical-features-and-treatment-protocols-of-240-patients-with-optic-neuropathy-experiences-from-a-neuro-ophthalmological-clinic-in-the-aegean-region-of-turkey
#4
Omer Karti, Dilek Top Karti, İlay Hilal Kilic, Figen Gokcay, Nese Celebisoy
PURPOSE: To analyze the demographic patterns, clinical characteristics, and treatment protocols of optic neuropathies. MATERIALS AND METHODS: The hospital data of patients with optic neuropathy admitted to the Department of Neuro-ophthalmology in a tertiary referral center in Turkey between January 2010 to January 2017 were retrospectively analyzed. Demographic patterns, clinical features, treatment protocols, and the natural disease courses were assessed. RESULTS: The total number of patients with optic neuropathy seen over this period was 240, which consist of 43 with idiopathic optic neuritis (17...
December 19, 2017: International Ophthalmology
https://www.readbyqxmd.com/read/29249004/leber-hereditary-optic-neuropathy-and-longitudinally-extensive-transverse-myelitis
#5
C Bursle, K Riney, J Stringer, D Moore, G Gole, L S Kearns, D A Mackey, D Coman
Leber Hereditary Optic Neuropathy is an inherited optic neuropathy caused by mitochondrial DNA point mutations leading to sudden, painless loss of vision. We report a case of an 8-year-old boy presenting with a radiological phenotype of longitudinally extensive transverse myelitis on a background of severe visual impairment secondary to Leber Hereditary Optic Neuropathy (LHON). He was found to have dual mitochondrial DNA mutations at 14484 (MTND6 gene) and 4160 (MTND1 gene) in a family with a severe form of LHON characterised by not only an unusually high penetrance of optic neuropathy, but also severe extra-ocular neurological complications...
December 17, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29225014/leber-s-hereditary-optic-neuropathy-caused-by-a-mutation-in-mitochondrial-trnathr-in-eight-chinese-pedigrees
#6
Juanjuan Zhang, Yanchun Ji, Xiaoling Liu, Jie Chen, Bibin Wang, Minglian Zhang, Min-Xin Guan
PURPOSE: The purpose of this study was to investigate the pathophysiology underlying Leber's hereditary optic neuropathy (LHON)-associated mitochondrial tRNA mutation. METHODS: Severn hundred ninety-seven Han Chinese subjects underwent clinical and genetic evaluation and analysis of mitochondrial DNA (mtDNA). The cybrid cell lines were constructed by transferring mitochondria from lymphoblastoid cell lines derived from a Chinese family into mtDNA-less (ρo) cells...
December 7, 2017: Mitochondrion
https://www.readbyqxmd.com/read/29210930/leber-hereditary-optic-neuropathy-caused-by-a-mitochondrial-dna-10663t-c-point-mutation-and-its-response-to-idebenone-treatment
#7
Øystein Kalsnes Jørstad, Eva Meling Ødegaard, Ketil Riddervold Heimdal, Emilia Kerty, Ketil Riddervold Heimdal, Emilia Kerty
No abstract text is available yet for this article.
November 21, 2017: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
https://www.readbyqxmd.com/read/29209435/diseases-potentially-related-to-flammer-syndrome
#8
REVIEW
Katarzyna Konieczka, Carl Erb
Flammer syndrome (FS) is a prevalent and mostly benign condition. Subjects with FS seem to have a good life expectancy. Nevertheless, FS subjects are at increased risk for certain diseases, mainly when they are challenged by psychological stress or other stimuli such as coldness. FS is related to ocular diseases, such as normal-tension glaucoma, retinitis pigmentosa, central serous chorioretinopathy, optic nerve compartment syndrome, Leber's hereditary optic neuropathy, arterial or venous occlusions in the retina, and choroid and optic nerve head, despite the absence of classical vascular risk factors...
December 2017: EPMA Journal
https://www.readbyqxmd.com/read/29189152/the-progress-of-gene-therapy-for-leber-s-optic-hereditary-neuropathy
#9
Yong Zhang, Zhen Tian, Jiajia Yuan, Chang Liu, Hong Li Liu, Si Qi Ma, Bin Li
Leber's Optic Hereditary Neuropathy (LHON) is a common cause of teenaged blindness in both eyes for which there is currently no effective treatment. In 1871, the German ophthalmologist Theodor Leber was the first to describe the clinical characteristics of his namesake disease, and through unremitting efforts over the past 100 years, researchers have continued to increase their understanding of LHON. In recent years, using gene therapy, several groups have obtained breakthroughs in the treatment of the disease...
November 29, 2017: Current Gene Therapy
https://www.readbyqxmd.com/read/29188523/visual-acuity-testing-before-and-after-intravitreal-injection-of-raav2-nd4-in-patients
#10
Bin Li, Chenmian Wu
Gene therapy in ophthalmology has developed rapidly, and there has been a breakthrough in the treatment of Leber's hereditary optic neuropathy. After receiving an intravitreal injection of rAAV2-ND4, patients followed up over a certain time period showed a definite increase in visual acuity. Visual acuity testing is critical for assessing the efficacy of rAAV2-ND4 intravitreal injection.
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29133642/frequency-of-primary-mutations-of-leber-s-hereditary-optic-neuropathy-patients-in-north-indian-population
#11
Anushree Mishra, Saranya Devi, Rohit Saxena, Neerja Gupta, Madhulika Kabra, Madhumita Roy Chowdhury
PURPOSE: Leber's hereditary optic neuropathy (LHON) is an inherited optic neuropathy characterized by subacute painless vision loss. The majority of LHON is caused due to one of the three primary mutations in the mitochondrial DNA (m.G3460A, m.G11778A, and m.T14484C). The frequency of these mutations differs in different populations. The purpose of this study is to observe the frequency of three common primary mutations in the North Indian population. METHODS: Forty LHON patients within the age group of 10-50 years underwent molecular testing for primary mutations...
November 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/29133631/mitochondrial-genetics-and-therapeutic-overview-of-leber-s-hereditary-optic-neuropathy
#12
REVIEW
Agaath Hedina Manickam, Minu Jenifer Michael, Sivasamy Ramasamy
Leber's hereditary optic neuropathy (LHON) is a common inherited mitochondrial disorder that is characterized by the degeneration of the optic nerves, leading to vision loss. The major mutations in the mitochondrial genes ND1, ND4, and ND6 of LHON subjects are found to increase the oxidative stress experienced by the optic nerve cell, thereby leading to nerve cell damage. Accurate treatments are not available and drugs that are commercially available like Idebenone, EPI-743, and Bendavia with their antioxidant role help in reducing the oxidative stress experienced by the cell thereby preventing the progression of the disease...
November 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/29116953/identification-of-an-nd4-mutation-in-leber-hereditary-optic-neuropathy
#13
Qian Lu, Yi Guo, Junhui Yi, Xiong Deng, Zhijian Yang, Xiuhong Yuan, Hao Deng
SIGNIFICANCE: We identified a missense mutation, m.11778G>A (p.R340H), in the mitochondrially encoded NADH dehydrogenase 4 gene (ND4) in eight patients and three asymptomatic carriers, even though the incidence of this has been considered low in Chinese population. These results have implications for the families' genetic counseling and clinical management. PURPOSE: Leber hereditary optic neuropathy (LHON OMIM 535000) is one of the most common inherited optic neuropathies...
November 8, 2017: Optometry and Vision Science: Official Publication of the American Academy of Optometry
https://www.readbyqxmd.com/read/29057663/gene-therapy-for-inherited-retinal-and-optic-nerve-degenerations
#14
Nicholas A Moore, Nuria Morral, Thomas A Ciulla, Peter Bracha
The eye is a target for investigational gene therapy due to the monogenic nature of many inherited retinal and optic nerve degenerations (IRD), its accessibility, tight blood-ocular barrier, the ability to non-invasively monitor for functional and anatomic outcomes, as well as its relative immune privileged state.Vectors currently used in IRD clinical trials include adeno-associated virus (AAV), small single-stranded DNA viruses, and lentivirus, RNA viruses of the retrovirus family. Both can transduce non-dividing cells, but AAV are non-integrating, while lentivirus integrate into the host cell genome, and have a larger transgene capacity...
October 23, 2017: Expert Opinion on Biological Therapy
https://www.readbyqxmd.com/read/29049835/the-photopic-negative-response-an-objective-measure-of-retinal-ganglion-cell-function-in-patients-with-leber-s-hereditary-optic-neuropathy
#15
Rustum Karanjia, Adriana Berezovsky, Paula Yuri Sacai, Nivea Nunes Cavascan, Henry Yuheng Liu, Samir Nazarali, Milton Nunes Moraes-Filho, Kirsten Anderson, Jeffrey Show Tran, Sung EunSong Watanabe, Milton Nunes Moraes, Federico Sadun, Anna Maria DeNegri, Piero Barboni, Carolina do Val Ferreira Ramos, Chiara La Morgia, Valerio Carelli, Rubens Belfort, Stuart Glenn Coupland, Solange Rios Salomao, Alfredo A Sadun
Purpose: The photopic negative response (PhNR) is a slow negative component of a flash photopic full-field ERG that has been shown to be specific for retinal ganglion cell (RGC) activity. Direct evaluation of RGC function is desirable in patients with Leber's hereditary optic neuropathy (LHON) in which the loss of central acuity can make it difficult to monitor patients with standard metrics. The purpose of this study was to evaluate the use of PhNR as an objective noninvasive clinical metric in LHON...
May 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29047345/visual-prognosis-better-in-eyes-with-less-severe-reduction-of-visual-acuity-one-year-after-onset-of-leber-hereditary-optic-neuropathy-caused-by-the-11-778-mutation
#16
Yukihiko Mashima, Kazuteru Kigasawa, Kei Shinoda, Masato Wakakura, Yoshihisa Oguchi
BACKGROUND: Patients with Leber hereditary optic neuropathy (LHON) have a progressive decrease of their visual acuity which can deteriorate to <0.1. Some patients can have a partial recovery of their vision in one or both eyes. One prognostic factor associated with a recovery of vision is an early-age onset. The purpose of this study was to determine other clinical factors that are predictive of a good visual recovery. METHODS: Sixty-one Japanese LHON patients, with the 11,778 mutation and a mean age of 23...
October 18, 2017: BMC Ophthalmology
https://www.readbyqxmd.com/read/29046555/mother-s-curse-neutralizes-natural-selection-against-a-human-genetic-disease-over-three-centuries
#17
Emmanuel Milot, Claudia Moreau, Alain Gagnon, Alan A Cohen, Bernard Brais, Damian Labuda
According to evolutionary theory, mitochondria could be poisoned gifts that mothers transmit to their sons. This is because mutations harmful to males are expected to accumulate in the mitochondrial genome, the so-called 'mother's curse'. However, the contribution of the mother's curse to the mutation load in nature remains largely unknown and hard to predict, because compensatory mechanisms could impede the spread of deleterious mitochondria. Here we provide evidence for the mother's curse in action over 290 years in a human population...
September 2017: Nature Ecology & Evolution
https://www.readbyqxmd.com/read/29040550/rescue-of-cell-death-and-inflammation-of-a-mouse-model-of-complex-1-mediated-vision-loss-by-repurposed-drug-molecules
#18
Alfred K Yu, Sandipan Datta, Marissa Z McMackin, Gino A Cortopassi
Inherited mitochondrial optic neuropathies, such as Leber's hereditary optic neuropathy (LHON) and Autosomal dominant optic atrophy (ADOA) are caused by mutant mitochondrial proteins that lead to defects in mitochondrial complex 1-driven ATP synthesis, and cause specific retinal ganglion cell (RGC) loss. Complex 1 defects also occur in patients with primary open angle glaucoma (POAG), in which there is specific RGC loss. The treatment of mitochondrial optic neuropathy in the US is only supportive. The Ndufs4 knockout (Ndufs4 KO) mouse is a mitochondrial complex 1-deficient model that leads to RGC loss and rapid vision loss and allows for streamlined testing of potential therapeutics...
October 12, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28994349/the-therapeutic-potential-of-a-calorie-restricted-ketogenic-diet-for-the-management-of-leber-hereditary-optic-neuropathy
#19
Mithu Storoni, Matthieu P Robert, Gordon T Plant
Leber hereditary optic neuropathy (LHON) is a maternally inherited, bilateral, sequential optic neuropathy that usually affects young males. LHON arises from a defect in complex I of the oxidative phosphorylation chain that generates increased reactive oxygen species and causes a decline in cellular ATP production. There exists no cure at present for LHON. Asymptomatic LHON mutation carriers show signs of increased mitochondrial biogenesis that may compensate for the compromise in complex I activity. Partial recovery in LHON is associated with a wider optic disc diameter and a younger age at disease onset, which may allow for greater mitochondrial bioenergetic capacity...
October 10, 2017: Nutritional Neuroscience
https://www.readbyqxmd.com/read/28991104/international-consensus-statement-on-the-clinical-and-therapeutic-management-of-leber-hereditary-optic-neuropathy
#20
Valerio Carelli, Michele Carbonelli, Irenaeus F de Coo, Aki Kawasaki, Thomas Klopstock, Wolf A Lagrèze, Chiara La Morgia, Nancy J Newman, Christophe Orssaud, Jan Willem R Pott, Alfredo A Sadun, Judith van Everdingen, Catherine Vignal-Clermont, Marcela Votruba, Patrick Yu-Wai-Man, Piero Barboni
Leber hereditary optic neuropathy (LHON) is currently estimated as the most frequent mitochondrial disease (1 in 27,000-45,000). Its molecular pathogenesis and natural history is now fairly well understood. LHON also is the first mitochondrial disease for which a treatment has been approved (idebenone-Raxone, Santhera Pharmaceuticals) by the European Medicine Agency, under exceptional circumstances because of the rarity and severity of the disease. However, what remains unclear includes the optimal target population, timing, dose, and frequency of administration of idebenone in LHON due to lack of accepted definitions, criteria, and general guidelines for the clinical management of LHON...
December 2017: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
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