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Leber's hereditary optic

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https://www.readbyqxmd.com/read/29133642/frequency-of-primary-mutations-of-leber-s-hereditary-optic-neuropathy-patients-in-north-indian-population
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
https://www.readbyqxmd.com/read/28990081/leber-s-hereditary-optic-neuropathy-is-potentially-associated-with-a-novel-m-5587t-c-mutation-in-two-pedigrees
#11
Yanchun Ji, Lihua Qiao, Xiaoyang Liang, Ling Zhu, Yinglong Gao, Juanjuan Zhang, Zidong Jia, Qi-Ping Wei, Xiaoling Liu, Pingping Jiang, Min-Xin Guan
Mitochondrial (mt)DNA mutations have been revealed to be associated with Leber's hereditary optic neuropathy (LHON). The present study conducted clinical, genetic and molecular evaluations of two Han Chinese families. A total of 4 (3 men and 1 female) out of 14 matrilineal relatives in the families exhibited visual impairment with variable severity and age of onset. The average age of onset of visual loss was 20.5 years old. Molecular analysis of the complete mitochondrial genome in these pedigrees demonstrated that the three primary mutations associated with LHON were not detected; however, the homoplasmic m...
December 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28971364/genetic-testing-in-pediatric-ophthalmology
#12
REVIEW
Ishwar Chander Verma, Preeti Paliwal, Kanika Singh
The authors review the utility of genetic testing in ophthalmic disorders - precise diagnosis, accurate prognosis, genetic counseling, prenatal diagnosis, and entry into gene-specific therapeutic trials. The prerequisites for a successful outcome of a genetic test are an accurate clinical diagnosis, a careful family history that guides which genes to study, and genetic counseling (both pre-test and post-test). The common eye disorders for which genetic testing is commonly requested are briefly discussed - anophthalmia, microphthalmia, coloboma, anterior segment dysgenesis, corneal dystrophies, cataracts, optic atrophy, congenital glaucoma, congenital amaurosis, retinitis pigmentosa, color blindness, juvenile retinoshisis, retinoblastoma etc...
October 2, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28944608/coexistence-of-mutations-in-keratin-10-krt10-and-the-mitochondrial-genome-in-a-patient-with-ichthyosis-with-confetti-and-leber-s-hereditary-optic-neuropathy
#13
Agnieszka Kalinska-Bienias, Agnieszka Pollak, Cezary Kowalewski, Urszula Lechowicz, Piotr Stawinski, Aleksandra Gergont, Joanna Kosinska, Ewa Pronicka, Pawel Kowalski, Katarzyna Wozniak, Rafal Ploski
Ichthyosis with confetti (IWC) is a severe congenital genodermatosis characterized by ichthyosiform erythroderma since birth and confetti-like spots of normal skin appearing in childhood as a results of revertant mosaicism. This disorder is caused by mutations in KRT10 or KRT1 genes. We report a 16-year-old boy who presented ichthyosiform erythroderma with severe desquamation since birth and gradually worsening psycho-neurological symptoms (mental retardation, ataxia, dystonia, hypoacusis). The patient conspicuously lacked typical confetti-like spots at the age of 16...
November 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28941528/dominant-optic-atrophy-and-leber-s-hereditary-optic-neuropathy-update-on-clinical-features-and-current-therapeutic-approaches
#14
Bo Young Chun, Joseph F Rizzo
Dominant optic atrophy (DOA) and Leber hereditary optic neuropathy (LHON) are the two most common inherited optic neuropathies encountered in clinical practice. This review provides a summary of recent advances in the understanding of the clinical manifestations, current treatments, and ongoing clinical trials of these two optic neuropathies. Substantial progress has been made in the understanding of the clinical, genetic, and pathophysiological basis of DOA and LHON. Pathogenic OPA1 gene mutations in DOA and 3 primary mutations of mitochondrial DNA in LHON-induced mitochondrial dysfunction, which in turn leads to increased reactive oxygen species levels in mitochondria and possibly insufficient ATP production...
May 2017: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28930148/elongation-of-axon-extension-for-human-ipsc-derived-retinal-ganglion-cells-by-a-nano-imprinted-scaffold
#15
Tien-Chun Yang, Jen-Hua Chuang, Waradee Buddhakosai, Wen-Ju Wu, Chen-Ju Lee, Wun-Syuan Chen, Yi-Ping Yang, Ming-Chia Li, Chi-Hsien Peng, Shih-Jen Chen
Optic neuropathies, such as glaucoma and Leber's hereditary optic neuropathy (LHON) lead to retinal ganglion cell (RGC) loss and therefore motivate the application of transplantation technique into disease therapy. However, it is a challenge to direct the transplanted optic nerve axons to the correct location of the retina. The use of appropriate scaffold can promote the proper axon growth. Recently, biocompatible materials have been integrated into the medical field, such as tissue engineering and reconstruction of damaged tissues or organs...
September 20, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28892826/increased-mortality-and-comorbidity-associated-with-leber-s-hereditary-optic-neuropathy-a-nationwide-cohort-study
#16
Nanna Vestergaard, Thomas Rosenberg, Christian Torp-Pedersen, Henrik Vorum, Carl U Andersen, Kristian Aasbjerg
Purpose: Leber's hereditary optic neuropathy (LHON) is a mitochondrial genetic disease in which optic neuropathy is considered a key feature. Several other manifestations of LHON have been reported; however, only little is known of their incidence and the life expectancy in LHON patients. Methods: This study, based on Danish nationwide health registries, included 141 patients diagnosed with LHON and 297 unaffected family members in the maternal line. The incidence of comorbidities and mortality for patients with LHON and unaffected family members was compared with that in the general population...
September 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28806189/the-use-of-optical-coherence-tomography-in-neuro-ophthalmology
#17
REVIEW
Noel C Y Chan, Carmen K M Chan
PURPOSE OF REVIEW: In the last decade, with the advances of optical coherence tomography (OCT) technology, different imaging protocols and analysis algorithms have been introduced to maximize the potential of this diagnostic tool in the evaluation of different eye diseases. This review aims to provide an update on these additional features, with respect to the management of a diverse range of neuro-ophthalmologic conditions. RECENT FINDINGS: Macular ganglion cell complex (mGCC) analysis has been shown to be superior to peripapillary retinal nerve fiber layer (pRNFL) analysis in certain settings, such as differentiating Leber's hereditary optic neuropathy from functional visual loss; monitoring neurodegenerative diseases or multiple sclerosis; and predicting visual loss in nonarteritic ischemic optic neuropathy...
November 2017: Current Opinion in Ophthalmology
https://www.readbyqxmd.com/read/28802665/no-evidence-of-association-between-optic-neuritis-and-secondary-lhon-mtdna-mutations-in-patients-with-multiple-sclerosis
#18
Sasan Andalib, Mahnaz Talebi, Ebrahim Sakhinia, Mehdi Farhoudi, Homayoun Sadeghi-Bazargani, Nooshin Masoudian, Manouchehr Seyedi Vafaee, Albert Gjedde
Leber's Hereditary Optic Neuropathy (LHON) shares features with Multiple Sclerosis (MS). Both diseases develop optic lesions. Frequent secondary LHON mutations in MS patients may explain the optic damage. Here, we tested the hypothesis that secondary LHON mutations are associated with optic neuritis (ON) in MS patients. We recruited 56 MS subjects with ON and 47 MS subjects without ON. DNA was extracted by salting out, after sampling of peripheral blood from each participant. We completed Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) analysis with appropriate primers and restriction endonucleases for seven secondary LHON mutations...
August 10, 2017: Mitochondrion
https://www.readbyqxmd.com/read/28768321/leber-s-hereditary-optic-neuropathy-specific-mutation-m-11778g-a-exists-on-diverse-mitochondrial-haplogroups-in-india
#19
Nahid Akhtar Khan, Periyasamy Govindaraj, Nagasamy Soumittra, Sonika Sharma, Sundaramoorthy Srilekha, Selvakumar Ambika, Ayyasamy Vanniarajan, Angamuthu Kanikannan Meena, Megha S Uppin, Challa Sundaram, Parayil Sankaran Bindu, Narayanappa Gayathri, Arun B Taly, Kumarasamy Thangaraj
Purpose: Leber's hereditary optic neuropathy (LHON; OMIM 535000) is one of the most common maternally inherited mitochondrial disorders. Three mitochondrial DNA point mutations-m.3460G>A (MT-ND1), m.11778G>A (MT-ND4), and m.14484T>C (MT-ND6)-account for the majority of reported LHON cases. Only approximately 50% of males and approximately 10% of females carrying these mutations develop optic neuropathy and blindness. Additional factors, such as mtDNA/nuclear genetic background and environmental modifiers, are likely to contribute toward the observed incomplete penetrance and gender bias...
August 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28761322/optimization-of-a-genotyping-screening-based-on-hydrolysis-probes-to-detect-the-main-mutations-related-to-leber-hereditary-optic-neuropathy-lhon
#20
Fábio Tadeu Arrojo Martins, Paulo Maurício do Amor Divino Miranda, Marcela Scabello Amaral Fernandes, Andréa Trevas Maciel-Guerra, Edi Lúcia Sartorato
PURPOSE: Leber hereditary optic neuropathy (LHON) is a mitochondrial inherited disease characterized by bilateral vision problems, such as reduced visual acuity, dyschromatopsia, and central or centrocecal scotoma. Of these cases, 95% are caused by three mutations in mitochondrial DNA (mtDNA): m.G11778A, followed by m.T14484C and m.G3460A. The remaining 5% of cases of LHON are caused by rare mutations also present in mtDNA. Although conventional molecular tools for molecular screening of LHON are becoming popular, in most cases these tools are still expensive and time-consuming and are difficult to reproduce...
2017: Molecular Vision
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