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Leber's hereditary optic

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https://www.readbyqxmd.com/read/28314831/childhood-onset-leber-hereditary-optic-neuropathy
#1
Anna Majander, Richard Bowman, Joanna Poulton, Richard J Antcliff, M Ashwin Reddy, Michel Michaelides, Andrew R Webster, Patrick F Chinnery, Marcela Votruba, Anthony T Moore, Patrick Yu-Wai-Man
BACKGROUND: The onset of Leber hereditary optic neuropathy (LHON) is relatively rare in childhood. This study describes the clinical and molecular genetic features observed in this specific LHON subgroup. METHODS: Our retrospective study consisted of a UK paediatric LHON cohort of 27 patients and 69 additional cases identified from a systematic review of the literature. Patients were included if visual loss occurred at the age of 12 years or younger with a confirmed pathogenic mitochondrial DNA mutation: m...
March 17, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/28298852/leber-s-hereditary-optic-neuropathy-report-of-a-simple-case-associated-with-a-rare-variant-mutation
#2
Ravinder Mohan Malhotra, Mousa Ali Al Mejally, Hanadi Mahmoud Abualela, Marwa Ahmed Eltemamy
No abstract text is available yet for this article.
January 2017: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/28291071/circinate-partition-like-findings-on-cone-mosaic-imaged-by-adaptive-optics-scanning-laser-ophthalmoscopy-in-eyes-with-inner-nuclear-layer-microcystic-changes
#3
Tomoko Hasegawa, Sotaro Ooto, Yukiko Makiyama, Masayuki Hata, Kazuaki Miyamoto, Nagahisa Yoshimura
PURPOSE: To report cases that showed partition-like, dark areas in the cone mosaic on adaptive optics scanning laser ophthalmoscopy (AO-SLO) images in eyes with inner nuclear layer (INL) microcystic changes. METHODS: Eyes with INL microcystic changes were imaged by prototype AO-SLO. RESULTS: An eye with Leber hereditary optic neuropathy, an eye with traumatic optic neuropathy, and an eye with retinitis pigmentosa that showed microcystic lesions in the INL were imaged by AO-SLO...
March 13, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28281297/never-too-old-late-onset-leber-hereditary-optic-neuropathy
#4
Stephen J Vincent, Kirsty A Lowe, Cindy S Monsour
No abstract text is available yet for this article.
March 9, 2017: Clinical & Experimental Optometry: Journal of the Australian Optometrical Association
https://www.readbyqxmd.com/read/28260855/profound-vision-loss-impairs-psychological-well-being-in-young-and-middle-aged-individuals
#5
Giancarlo A Garcia, Matin Khoshnevis, Jesse Gale, Starleen E Frousiakis, Tiffany J Hwang, Lissa Poincenot, Rustum Karanjia, David Baron, Alfredo A Sadun
PURPOSE: The aim of this study was to evaluate the effects of profound vision loss on psychological well-being in adolescents, young adults, and middle-aged adults with regard to mood, interpersonal interactions, and career-related goals. In addition, we assessed the significance of the resources that may be used to enhance psychological well-being in cases of profound vision loss, and in particular, examined the utility of low vision aids and the role of the ophthalmologist as a provider of emotional support...
2017: Clinical Ophthalmology
https://www.readbyqxmd.com/read/28196731/natural-history-of-conversion-of-leber-s-hereditary-optic-neuropathy-a-prospective-case-series
#6
Tiffany Jean Hwang, Rustum Karanjia, Milton Nunes Moraes-Filho, Jesse Gale, Jeffrey Show Tran, Edward R Chu, Solange R Salomao, Adriana Berezovsky, Rubens Belfort, Milton Nunes Moraes, Federico Sadun, Anna Maria DeNegri, Chiara La Morgia, Piero Barboni, Carolina do V F Ramos, Carlos Filipe Chicani, Peter A Quiros, Valerio Carelli, Alfredo A Sadun
PURPOSE: To illustrate the natural history of Leber's hereditary optic neuropathy (LHON). DESIGN: Prospective observational case series. PARTICIPANTS: The Soave-Brazil pedigree of m.11778G>A/ND4 mitochondrial DNA LHON mutation. METHODS: A prospectively acquired database of the Soave-Brazil pedigree was reviewed. Data from 285 individuals were included in the database over a 15-year period. The pedigree was reviewed for unaffected mutation carriers who converted to affected status, 6 patients with LHON were identified...
February 10, 2017: Ophthalmology
https://www.readbyqxmd.com/read/28186610/-progress-in-research-on-pathogenic-genes-and-gene-therapy-for-inherited-retinal-diseases
#7
Ling Zhu, Cong Cao, Jiji Sun, Tao Gao, Xiaoyang Liang, Zhipeng Nie, Yanchun Ji, Pingping Jiang, Minxin Guan
Inherited retinal diseases (IRDs), including retinitis pigmentosa, Usher syndrome, Cone-Rod degenerations, inherited macular dystrophy, Leber's congenital amaurosis, Leber's hereditary optic neuropathy are the most common and severe types of hereditary ocular diseases. So far more than 200 pathogenic genes have been identified. With the growing knowledge of the genetics and mechanisms of IRDs, a number of gene therapeutic strategies have been developed in the laboratory or even entered clinical trials. Here the progress of IRD research on the pathogenic genes and therapeutic strategies, particularly gene therapy, are reviewed...
February 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28142161/leber-s-hereditary-optic-neuropathy-normal-tension-glaucoma-and-flammer-syndrome-long-term-follow-up-of-a-patient
#8
K Konieczka, J Flammer, J Sternbuch, T Binggeli, S Fraenkl
No abstract text is available yet for this article.
January 31, 2017: Klinische Monatsblätter Für Augenheilkunde
https://www.readbyqxmd.com/read/28139165/leber-hereditary-optic-neuropathy-due-to-a-new-nd1-mutation
#9
Patrick Soldath, Marianne Wegener, Birgit Sander, Thomas Rosenberg, Morten Duno, Flemming Wibrand, John Vissing
We report a proband with Leber hereditary optic neuropathy (LHON), in whom we have identified a novel homoplasmic m.3,395A>G mutation in the ND1 gene. The mutation alters a highly conserved amino acid in codon 30 which previously has been associated with LHON and leads to a severe selective complex I deficiency. By providing further evidence for pathogenicity we conclude that m.3,395A>G is pathogenic. High definition optical coherence tomography of the retina and peripapillary retinal nerve fiber layer (pRNFL) confirms recent reports that retinal ganglion cell loss precedes axonal loss in LHON and is present in the early stage of the disease...
January 31, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28128056/treatment-of-leber-s-hereditary-optic-neuropathy
#10
Rustum Karanjia, Jasdeep Chahal, Michael Ammar, Alfredo A Sadun
Leber's hereditary optic neuropathy (LHON) is a rare mitochondrial disease of complex I of the respiratory chain. Patients typically present with subacute vision loss in one eye followed by the loss of vision in the second eye approximately 4-8 weeks later, ultimately leading to blindness. Therapeutic interventions have so far failed to prevent this vision loss; however, there has been recent interest in new managements for this prototypic mitochondrial disease. A review of the literature was performed and articles were identified using PubMed (the search terms LHON and treatment were used)...
2017: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/28093355/evaluating-the-therapeutic-potential-of-idebenone-and-related-quinone-analogues-in-leber-hereditary-optic-neuropathy
#11
Patrick Yu-Wai-Man, Devorah Soiferman, David G Moore, Florence Burté, Ann Saada
Leber hereditary optic neuropathy (LHON) is an important cause of mitochondrial blindness among young adults. In this study, we investigated the potential of four quinone analogues (CoQ1, CoQ10, decylubiquinone and idebenone) in compensating for the deleterious effect of the m.11778G>A mitochondrial DNA mutation. The LHON fibroblast cell lines tested exhibited reduced cell growth, impaired mitochondrial bioenergetics and elevated levels of reactive oxygen species (ROS). Idebenone increased ATP production and reduced ROS levels, but the effect was partial and cell-specific...
January 16, 2017: Mitochondrion
https://www.readbyqxmd.com/read/28081242/genetic-and-clinical-analyses-of-doa-and-lhon-in-304-chinese-patients-with-suspected-childhood-onset-hereditary-optic-neuropathy
#12
Yadi Li, Jie Li, Xiaoyun Jia, Xueshan Xiao, Shiqiang Li, Xiangming Guo
Leber hereditary optic neuropathy (LHON) and dominant optic atrophy (DOA), the most common forms of hereditary optic neuropathy, are easily confused, and it is difficult to distinguish one from the other in the clinic, especially in young children. The present study was designed to survey the mutation spectrum of common pathogenic genes (OPA1, OPA3 and mtDNA genes) and to analyze the genotype-phenotype characteristics of Chinese patients with suspected childhood-onset hereditary optic neuropathy. Genomic DNA and clinical data were collected from 304 unrelated Chinese probands with suspected hereditary optic neuropathy with an age of onset below 14 years...
2017: PloS One
https://www.readbyqxmd.com/read/28040497/a-review-of-mitochondrial-optic-neuropathies-from-inherited-to-acquired-forms
#13
Yasmine L Pilz, Sherry J Bass, Jerome Sherman
In recent years, the term mitochondrial optic neuropathy (MON) has increasingly been used within the literature to describe a group of optic neuropathies that exhibit mitochondrial dysfunction in retinal ganglion cells (RGCs). Interestingly, MONs include genetic aetiologies, such as Leber hereditary optic neuropathy (LHON) and dominant optic atrophy (DOA), as well as acquired aetiologies resulting from drugs, nutritional deficiencies, and mixed aetiologies. Regardless of an inherited or acquired cause, patients exhibit the same clinical manifestations with selective loss of the RGCs due to mitochondrial dysfunction...
December 28, 2016: Journal of Optometry
https://www.readbyqxmd.com/read/28035529/hereditary-retinal-dystrophy
#14
Thomas C Hohman
As our understanding of the genetic basis for inherited retinal disease has expanded, gene therapy has advanced into clinical development. When the gene mutations associated with inherited retinal dystrophies were identified, it became possible to create animal models in which individual gene were altered to match the human mutations. The retina of these animals were then characterized to assess whether the mutated genes produced retinal phenotypes characteristic of disease-affected patients. Following the identification of a subpopulation of patients with the affected gene and the development of techniques for the viral gene transduction of retinal cells, it has become possible to deliver a copy of the normal gene into the retinal sites of the mutated genes...
December 30, 2016: Handbook of Experimental Pharmacology
https://www.readbyqxmd.com/read/28027875/bipolar-cell-reduction-precedes-retinal-ganglion-neuron-loss-in-a-complex-1-knockout-mouse-model
#15
Lanying Song, Alfred Yu, Karl Murray, Gino Cortopassi
Inherited mitochondrial complex 1 deficiency causes Leber's hereditary Optic Neuropathy (LHON) and retinal ganglion cell (RGC) degeneration, and optic neuropathies are common in many inherited mitochondrial diseases. How mitochondrial defects pathomechanistically trigger optic neuropathy remains unclear. We observe that complex 1-deficient Ndufs4-/- mice present with acute vision loss around p30, and this vision loss is coincident with an 'inflammatory wave'. In order to understand what causes the inflammatory wave we explored retinal pathology that occurs from p20-p30...
February 15, 2017: Brain Research
https://www.readbyqxmd.com/read/28005053/-leber-s-hereditary-optic-neuropathy-and-epilepsy-a-case-report
#16
A S Kotov, E V Gushchina, Yu V Matyuk, M N Borisova, M V Panteleeva, A V Shatalin
A clinical case of a young man with rapid bilateral visual impairment developed 2 months after the onset of generalized convulsive seizures is presented. The replacement of valproate to levetiracetam led to the remission of seizures, but the prognosis for vision remains poor, particularly given the pessimistic results of optical coherence tomography (OCT).
2016: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/27989883/whole-mitochondrial-genome-analysis-in-south-indian-patients-with-leber-s-hereditary-optic-neuropathy
#17
Bibhuti Ballav Saikia, Sushil Kumar Dubey, Mahesh Kumar Shanmugam, Periasamy Sundaresan
Leber's hereditary optic neuropathy (LHON) is a mitochondrial DNA (mtDNA) associated neurodegenerative disorder of retinal ganglion cells. In this study, whole mitochondrial genome sequencing of 75 LHON patients and 40 controls was performed to identify the mutation frequency and haplogroup background of South Indian population. Analysis of mtDNA revealed 559 different variants in LHON patients, including 7 pathogenic mutations, 30 private, and 22 other disease associated variants. A significantly higher (p=0...
October 27, 2016: Mitochondrion
https://www.readbyqxmd.com/read/27984598/-the-role-of-mt-nd1-m-3635g-a-mutation-in-leber-s-hereditary-optic-neuropathy
#18
Juanjuan Zhang, Zengjun Zhang, Runing Fu, Yanchun Ji, Pingping Jiang, Yi Tong, Jia Qu, Minxin Guan
OBJECTIVE: To investigate the role of MT-ND1 m.3635G>A mutation in the pathogenesis of Leber's hereditary optic neuropathy (LHON). METHODS: Biochemical characteristics including the activity of complex Ⅰ, ATP production and oxygen consumption rate among lymphoblastoid cell lines derived from 3 carriers, 3 affected matrilineal relatives of the families and 3 controls were compared. RESULTS: Comparison of mitochondrial functions in lymphoblastoid cell lines of the carriers, patients and controls showed a 51...
December 10, 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/27974645/dysregulated-mitophagy-and-mitochondrial-organization-in-optic-atrophy-due-to-opa1-mutations
#19
Chunyan Liao, Neil Ashley, Alan Diot, Karl Morten, Kanchan Phadwal, Andrew Williams, Ian Fearnley, Lyndon Rosser, Jo Lowndes, Carl Fratter, David J P Ferguson, Laura Vay, Gerardine Quaghebeur, Isabella Moroni, Stefania Bianchi, Costanza Lamperti, Susan M Downes, Kamil S Sitarz, Padraig J Flannery, Janet Carver, Eszter Dombi, Daniel East, Matilde Laura, Mary M Reilly, Heather Mortiboys, Remko Prevo, Michelangelo Campanella, Matthew J Daniels, Massimo Zeviani, Patrick Yu-Wai-Man, Anna Katharina Simon, Marcela Votruba, Joanna Poulton
OBJECTIVE: To investigate mitophagy in 5 patients with severe dominantly inherited optic atrophy (DOA), caused by depletion of OPA1 (a protein that is essential for mitochondrial fusion), compared with healthy controls. METHODS: Patients with severe DOA (DOA plus) had peripheral neuropathy, cognitive regression, and epilepsy in addition to loss of vision. We quantified mitophagy in dermal fibroblasts, using 2 high throughput imaging systems, by visualizing colocalization of mitochondrial fragments with engulfing autophagosomes...
January 10, 2017: Neurology
https://www.readbyqxmd.com/read/27928414/leber-hereditary-optic-neuropathy-with-interval-of-visual-loss-greater-than-12-months
#20
Renata Cristina Ferreira Prado, Frederico Castelo Moura
A 28-year-old man presented with severe left visual loss and normal right visual acuity. The left fundus examination showed temporal pallor and complete absence of the nerve fibre layer (NFL) of papillomacular bundle. Right fundus examination showed focal loss of inferotemporal NFL. Magnetic resonance and serum aquaporin-4 antibody were negative. After 14 months of the initial visual involvement, the patient suffered subacute visual loss in contralateral eye. Genetic study revealed the 11778 point mitochondrial DNA (mtDNA) mutation associated with Leber hereditary optic neuropathy (LHON)...
October 2016: Neuro-ophthalmology
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