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Leber's hereditary optic

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https://www.readbyqxmd.com/read/27904503/stem-cell-ophthalmology-treatment-study-scots-bone-marrow-derived-stem-cells-in-the-treatment-of-leber-s-hereditary-optic-neuropathy
#1
Jeffrey N Weiss, Steven Levy, Susan C Benes
The Stem Cell Ophthalmology Treatment Study (SCOTS) is currently the largest-scale stem cell ophthalmology trial registered at ClinicalTrials.gov (identifier: NCT01920867). SCOTS utilizes autologous bone marrow-derived stem cells (BMSCs) to treat optic nerve and retinal diseases. Treatment approaches include a combination of retrobulbar, subtenon, intravitreal, intra-optic nerve, subretinal, and intravenous injection of autologous BMSCs according to the nature of the disease, the degree of visual loss, and any risk factors related to the treatments...
October 2016: Neural Regeneration Research
https://www.readbyqxmd.com/read/27881490/new-micellar-electrokinetic-chromatographic-method-for-analyzing-idebenone-in-pediatric-formulations
#2
Mario Contin, Fabián Buontempo, Cristian García Becerra, Cecilia Dobrecky, Silvia Lucangioli, Valeria Tripodi
A novel, simple and reliable method based on micellar electrokinetic chromatography with ultraviolet detection was developed to analyze idebenone in a pediatric formulation. Idebenone is a synthetic short chain benzoquinone that acts as an electron carrier in the mitochondrial electron transport chain facilitating the production of adenosine triphosphate. It can be found in two different redox states that differ in their physiological properties. Idebenone has been investigated as a treatment in several neurological disorders like Friedreich's ataxia, Leber's hereditary optic neuropathy, mitochondrial encephalomyopathies and senile dementia...
November 23, 2016: Journal of Chromatographic Science
https://www.readbyqxmd.com/read/27870803/three-dimensional-characteristics-of-four-macular-intraretinal-layer-thicknesses-in-symptomatic-and-asymptomatic-carriers-of-g11778a-mutation-with-leber-s-hereditary-optic-neuropathy
#3
Shenghai Huang, Qi Chen, Qingkai Ma, Xinting Liu, Fan Lu, Meixiao Shen
PURPOSE: To characterize by spectral domain optical coherence tomography the three-dimensional thicknesses of four macular intraretinal layers in symptomatic and asymptomatic carriers of G11778A mutation with Leber's hereditary optic neuropathy. METHODS: Twenty-five eyes (7 symptomatic eyes and 18 asymptomatic eyes) of patients with Leber's hereditary optic neuropathy from one Chinese family and 16 normal eyes were enrolled. Macular radial scans by spectral domain optical coherence tomography and custom software produced intraretinal three-dimensional thickness maps...
December 2016: Retina
https://www.readbyqxmd.com/read/27862925/gene-and-cell-based-therapies-for-inherited-retinal-disorders-an-update
#4
Jesse D Sengillo, Sally Justus, Yi-Ting Tsai, Thiago Cabral, Stephen H Tsang
Retinal degenerations present a unique challenge as disease progression is irreversible and the retina has little regenerative potential. No current treatments for inherited retinal disease have the ability to reverse blindness, and current dietary supplement recommendations only delay disease progression with varied results. However, the retina is anatomically accessible and capable of being monitored at high resolution in vivo. This, in addition to the immune-privileged status of the eye, has put ocular disease at the forefront of advances in gene- and cell-based therapies...
November 8, 2016: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/27860478/-gene-therapy-for-inherited-retinal-and-optic-nerve-disorders-current-knowledge
#5
Ľ Ďuďáková, B Kousal, H Kolářová, L Hlavatá, P Lišková
The aim of this review is to provide a comprehensive summary of current gene therapy clinical trials for monogenic and optic nerve disorders.The number of genes for which gene-based therapies are being developed is growing. At the time of writing this review gene-based clinical trials have been registered for Leber congenital amaurosis 2 (LCA2), retinitis pigmentosa 38, Usher syndrome 1B, Stargardt disease, choroideremia, achromatopsia, Leber hereditary optic neuropathy (LHON) and X-linked retinoschisis. Apart from RPE65 gene therapy for LCA2 and MT-ND4 for LHON which has reached phase III, all other trials are in investigation phase I and II, i...
2016: Ceská a Slovenská Oftalmologie
https://www.readbyqxmd.com/read/27853297/changes-in-choroidal-thickness-follow-the-rnfl-changes-in-leber-s-hereditary-optic-neuropathy
#6
Enrico Borrelli, Giacinto Triolo, Maria Lucia Cascavilla, Chiara La Morgia, Giovanni Rizzo, Giacomo Savini, Nicole Balducci, Paolo Nucci, Rosa Giglio, Fatemeh Darvizeh, Vincenzo Parisi, Francesco Bandello, Alfredo A Sadun, Valerio Carelli, Piero Barboni
Leber's hereditary optic neuropathy (LHON) is typically characterized by vascular alterations in the acute phase. The aim of this study was to evaluate choroidal changes occurring in asymptomatic, acute and chronic stages of LHON. We enrolled 49 patients with LHON, 19 with Dominant Optic Atrophy (DOA) and 22 healthy controls. Spectral Domain-Optical Coherence Tomography (SD-OCT) scans of macular and peripapillary regions were performed in all subjects, to evaluate macular and peripapillary choroidal thickness, and retinal nerve fiber layer (RNFL) thicknes...
November 17, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27847334/investigating-leber-s-hereditary-optic-neuropathy-cell-models-and-future-perspectives
#7
REVIEW
Elona Jankauskaitė, Ewa Bartnik, Agata Kodroń
Leber's hereditary optic neuropathy (LHON) was the first human disease found to be associated with a mitochondrial DNA (mtDNA) point mutation. The most common LHON mutations are 11778G>A, 3460G>A or 14484T>C. The most common clinical features of LHON are optic nerve and retina atrophy. The affected tissue is not available for studies, therefore a variety of other cell types are used. However, all models face difficulties and limitations in mitochondrial disease research. The advantages and disadvantages of different cell models used to study LHON, recent advances in animal model generation and novel approaches in this field are discussed...
November 12, 2016: Mitochondrion
https://www.readbyqxmd.com/read/27843288/leber-s-hereditary-optic-neuropathy-is-multiorgan-not-mono-organ
#8
REVIEW
Josef Finsterer, Sinda Zarrouk-Mahjoub
Leber's hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disorder with bilateral loss of central vision primarily due to mitochondrial DNA (mtDNA) mutations in subunits of complex I in the respiratory chain (primary LHON mutations), while other mtDNA mutations can also be causative. Since the first description, it is known that LHON is not restricted to the eyes but is a multisystem disorder additionally involving the central nervous system, ears, endocrinological organs, heart, bone marrow, arteries, kidneys, or the peripheral nervous system...
2016: Clinical Ophthalmology
https://www.readbyqxmd.com/read/27821565/optical-coherence-tomography-angiography-in-leber-hereditary-optic-neuropathy
#9
Joaquin O De Rojas, Nailyn Rasool, Royce W S Chen, Jason Horowitz, Jeffrey G Odel
No abstract text is available yet for this article.
November 8, 2016: Neurology
https://www.readbyqxmd.com/read/27803870/a-meta-analysis-of-the-association-between-different-genotypes-g11778a-t14484c-and-g3460a-of-leber-hereditary-optic-neuropathy-and-visual-prognosis
#10
Dong-Yu Guo, Xia-Wei Wang, Nan Hong, Yang-Shun Gu
AIM: To analyze the influences of different genotypes (G11778A, T14484C and G3460A) of Leber hereditary optic neuropathy (LHON) on visual prognosis. METHODS: After a systematic literature search, all relevant studies evaluating the association between the three primary mutations of LHON and visual prognosis were included. All statistical tests were calculated with Revman 5.2 and STATA 12.0. RESULTS: Ten independent studies were included finally...
2016: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/27798429/leber-hereditary-optic-neuropathy-visual-recovery-in-a-patient-with-the-rare-m-3890g-a-point-mutation
#11
Jared J Murray, Kaitlyn W Nolan, Collin McClelland, Michael S Lee
A 15-year-old boy experienced painless vision loss in the left eye of unknown duration. Leber hereditary optic neuropathy (LHON) was suspected, despite negative testing for the 3 most common pathogenic gene mutations and idebenone 300 mg 3 times daily was prescribed. Nine months later, the patient developed right eye involvement. Complete mitochondrial genome analysis revealed 2 rare variants-m.3890G>A of the MT-ND1 gene and m.8417C>A of the MT-ATP8 gene. The former has been described in severe infantile Leigh syndrome and LHON; the latter is of unknown significance...
October 27, 2016: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
https://www.readbyqxmd.com/read/27787713/leber-hereditary-optic-neuropathy-a-mitochondrial-disease-unique-in-many-ways
#12
Rui Bi, Ian Logan, Yong-Gang Yao
Leber hereditary optic neuropathy (LHON) was the first mitochondrial disease to be identified as being caused by mutations in the mitochondrial DNA (mtDNA). This disease has been studied extensively in the past two decades, particularly in Brazilian, Chinese and European populations; and many primary mutations have been reported. However, the disease is enigmatic with many unique features, and there still are several important questions to be resolved. The incomplete penetrance, the male-biased disease expression and the prevalence in young adults all defy a proper explanation...
October 28, 2016: Handbook of Experimental Pharmacology
https://www.readbyqxmd.com/read/27756254/severe-inflammatory-disease-activity-14%C3%A2-months-after-cessation-of-natalizumab-in-a-patient-with-leber-s-optic-neuropathy-and-multiple-sclerosis-a-case-report
#13
Trygve Holmøy, Antonie G Beiske, Svetozar Zarnovicky, Aija Zuleron Myro, Egil Røsjø, Emilia Kerty
BACKGROUND: Leber's hereditary optic neuropathy (LHON) co-occuring with multiple sclerosis-like disease (LHON-MS) is suggested to be a separate disease entity denoted Harding's disease. Little is known about the response to initiation and discontinuation of potent immunomodulatory treatment in LHON-MS. CASE PRESENTATION: We describe a LHON-MS patient with 27 years disease duration who developed severe disease activity peaking 14 months after discontinuation of natalizumab, with extensive new inflammatory lesions throughout the brain and in the spinal cord resembling immune inflammatory reconstitution syndrome...
October 18, 2016: BMC Neurology
https://www.readbyqxmd.com/read/27749593/evaluation-of-leber-s-hereditary-optic-neuropathy-patients-prior-to-a-gene-therapy-clinical-trial
#14
Shuo Yang, Hong Yang, Si-Qi Ma, Shuai-Shuai Wang, Heng He, Min-Jian Zhao, Bin Li
Gene therapy may be a promising approach for the treatment of Leber hereditary optic neuropathy. The aim of this study was to evaluate patients with this condition who were recruited into an upcoming gene therapy clinical trial and to assess any changes in the detection parameters to provide support for the clinical trial. Sixteen patients with Leber hereditary optic neuropathy were evaluated using visual function tests 12 months before the initiation of gene therapy. Then, the results of visual acuity (VA), visual field (VF), RNFL (retinal nerve fiber layer) thickness, and Pattern-reversal Visual evoked potential (PR-VEP) were compared and analyzed...
October 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27746671/a-real-time-arms-pcr-high-resolution-melt-curve-assay-for-the-detection-of-the-three-primary-mitochondrial-mutations-in-leber-s-hereditary-optic-neuropathy
#15
Siobhan Eustace Ryan, Fergus Ryan, Veronica O'Dwyer, Derek Neylan
PURPOSE: Approximately 95% of patients who are diagnosed with Leber's hereditary optic neuropathy (LHON) have one of three mitochondrial point mutations responsible for the disease, G3460A, G11778A, and T14484C. The purpose of this study was to develop a novel multiplex real-time amplification-refractory mutation system (ARMS) PCR combined with high-resolution melt curves to identify the individual mutations involved. The study aimed to provide a more robust, cost- and time-effective mutation detection strategy than that offered with currently available methods...
2016: Molecular Vision
https://www.readbyqxmd.com/read/27741086/vision-recovery-despite-retinal-ganglion-cell-loss-in-leber-s-hereditary-optic-neuropathy
#16
Ann L Webber
PURPOSE: To report vision recovery in a single case of Leber's hereditary optic neuropathy (LHON) (mtDNA14484/ND6 mutation) with longitudinal documentation of retinal ganglion cell layer by ocular coherence tomography (OCT) that includes the pre-onset, acute, and chronic stages of vision loss. CASE REPORT: We report LHON in a 16-year-old male patient with Type 1 diabetes and known and documented family history of LHON. The patient presented with best-corrected visual acuities of right eye 20/150 and left eye 20/25-...
December 2016: Optometry and Vision Science: Official Publication of the American Academy of Optometry
https://www.readbyqxmd.com/read/27721048/characterization-of-a-leber-s-hereditary-optic-neuropathy-lhon-family-harboring-two-primary-lhon-mutations-m-11778g-a-and-m-14484t-c-of-the-mitochondrial-dna
#17
Claudia B Catarino, Uwe Ahting, Mirjana Gusic, Arcangela Iuso, Birgit Repp, Katrin Peters, Saskia Biskup, Bettina von Livonius, Holger Prokisch, Thomas Klopstock
Leber's hereditary optic neuropathy (LHON) is an inherited mitochondrial disease that usually leads to acute or subacute bilateral central vision loss. In 95% of cases, LHON is caused by one of three primary mutations of the mitochondrial DNA (mtDNA), m.11778G>A in the MT-ND4 gene, m.14484T>C in the MT-ND6 gene, or m.3460G>A in the MT-ND1 gene. Here we characterize clinically, genetically, and biochemically a LHON family with multiple patients harboring two of these primary LHON mutations, m.11778G>A homoplasmic and m...
October 6, 2016: Mitochondrion
https://www.readbyqxmd.com/read/27711925/peripapillary-capillary-dilation-in-leber-hereditary-optic-neuropathy-revealed-by-optical-coherence-tomographic-angiography
#18
Eric D Gaier, John W Gittinger, Dean M Cestari, John B Miller
No abstract text is available yet for this article.
October 6, 2016: JAMA Ophthalmology
https://www.readbyqxmd.com/read/27699209/loss-of-ikbkap-causes-slow-progressive-retinal-degeneration-in-a-mouse-model-of-familial-dysautonomia
#19
Yumi Ueki, Grisela Ramirez, Ernesto Salcedo, Maureen E Stabio, Frances Lefcort
Familial dysautonomia (FD) is an autosomal recessive congenital neuropathy that is caused by a mutation in the gene for inhibitor of kappa B kinase complex-associated protein (IKBKAP). Although FD patients suffer from multiple neuropathies, a major debilitation that affects their quality of life is progressive blindness. To determine the requirement for Ikbkap in the developing and adult retina, we generated Ikbkap conditional knockout (CKO) mice using a TUBA1a promoter-Cre (Tα1-Cre). In the retina, Tα1-Cre expression is detected predominantly in retinal ganglion cells (RGCs)...
September 2016: ENeuro
https://www.readbyqxmd.com/read/27696015/a-neurodegenerative-perspective-on-mitochondrial-optic-neuropathies
#20
REVIEW
Patrick Yu-Wai-Man, Marcela Votruba, Florence Burté, Chiara La Morgia, Piero Barboni, Valerio Carelli
Mitochondrial optic neuropathies constitute an important cause of chronic visual morbidity and registrable blindness in both the paediatric and adult population. It is a genetically heterogeneous group of disorders caused by both mitochondrial DNA (mtDNA) mutations and a growing list of nuclear genetic defects that invariably affect a critical component of the mitochondrial machinery. The two classical paradigms are Leber hereditary optic neuropathy (LHON), which is a primary mtDNA disorder, and autosomal dominant optic atrophy (DOA) secondary to pathogenic mutations within the nuclear gene OPA1 that encodes for a mitochondrial inner membrane protein...
December 2016: Acta Neuropathologica
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