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Leber's hereditary optic

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
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)
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
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-...
October 12, 2016: Optometry and Vision Science: Official Publication of the American Academy of Optometry
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
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
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
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...
September 30, 2016: Acta Neuropathologica
Juan Manuel Chao de la Barca, Gilles Simard, Patrizia Amati-Bonneau, Zainab Safiedeen, Delphine Prunier-Mirebeau, Stéphanie Chupin, Cédric Gadras, Lydie Tessier, Naïg Gueguen, Arnaud Chevrollier, Valérie Desquiret-Dumas, Marc Ferré, Céline Bris, Judith Kouassi Nzoughet, Cinzia Bocca, Stéphanie Leruez, Christophe Verny, Dan Miléa, Dominique Bonneau, Guy Lenaers, M Carmen Martinez, Vincent Procaccio, Pascal Reynier
Leber's hereditary optic neuropathy (MIM#535000), the commonest mitochondrial DNA-related disease, is caused by mutations affecting mitochondrial complex I. The clinical expression of the disorder, usually occurring in young adults, is typically characterized by subacute, usually sequential, bilateral visual loss, resulting from the degeneration of retinal ganglion cells. As the precise action of mitochondrial DNA mutations on the overall cell metabolism in Leber's hereditary optic neuropathy is unknown, we investigated the metabolomic profile of the disease...
September 15, 2016: Brain: a Journal of Neurology
Byron L Lam, Samuel P Burke, Mindy X Wang, Gloria A Nadayil, Potyra R Rosa, Giovanni Gregori, William J Feuer, Sophia Cuprill-Nilson, Ruth Vandenbroucke, Xiaojun Zhang, John Guy
BACKGROUND AND OBJECTIVE: To determine macular retinal sublayer thickness changes in G11778A Leber hereditary optic neuropathy (LHON). PATIENTS AND METHODS: The authors performed a cross-sectional study by segmenting spectral-domain Cirrus OCT (Carl Zeiss Meditec, Dublin, CA) 512 × 128 macular cube scans from a prospective, observational study of G11778A LHON. The thickness of the retinal sublayers of LHON affected subjects and asymptomatic carriers were compared to those of a normal group...
September 1, 2016: Ophthalmic Surgery, Lasers & Imaging Retina
Jesse Gale, Matin Khoshnevis, Starleen E Frousiakis, Rustum Karanjia, Lissa Poincenot, Alfredo A Sadun, David A Baron
BACKGROUND: Leber׳s hereditary optic neuropathy usually causes rapid bilateral blindness in young adults, and thus represents a unique and severe psychologic stressor. OBJECTIVE: We aimed to describe adjustment to this major life event, using a new tool to enhance recall of past affective states by using life event-related context. This is the largest (n = 116 with Leber׳s hereditary optic neuropathy), and first study reporting on the emotional aspects of this nontrauma cause of blindness...
July 15, 2016: Psychosomatics
Lidia Carreño-Gago, Josep Gamez, Yolanda Cámara, Elena Alvarez de la Campa, Juan Sebastian Aller-Alvarez, Dulce Moncho, Maria Salvado, Alicia Galan, Xavier de la Cruz, Tomàs Pinós, Elena García-Arumí
Leber's hereditary optic neuropathy (LHON) is a mitochondrial genetic disease characterized by bilateral acute or subacute progressive central visual loss. Most cases of LHON syndrome are caused by point mutations in the MT-ND1, MT-ND4, and MT-ND6 genes. Here, we report a novel homoplasmic mutation in the MT-ND1 gene (m.3634A>G, p.Ser110Gly) in a patient with the classical clinical features of LHON syndrome. Several observations support the idea that the mutation is pathogenic and involved in the clinical phenotype of the patient: 1) The mutation affected a highly conserved amino acid, 2) A pathogenic mutation in the same amino acid (m...
September 7, 2016: Biochimica et Biophysica Acta
Paulo Maurício do Amôr Divino Miranda, Sueli Matilde da Silva-Costa, Juliane Cristina Balieiro, Marcela Scabello Amaral Fernandes, Rogério Marins Alves, Andrea Trevas Maciel Guerra, Ana Maria Marcondes, Edi Lúcia Sartorato
PURPOSE: Leber hereditary optic neuropathy (LHON) is a mitochondrial disease characterized by bilateral vision loss. More than 95% of LHON cases are associated with one of the three main mtDNA mutations: G11778A, T14484C, and G3460A. The other 5% of cases are due to other rare mutations related to the disease. The aim of this study was to identify the prevalence and spectrum of LHON mtDNA mutations, including the haplogroup, in a cohort of Brazilian patients with optic neuropathy and to evaluate the usefulness of iPLEX Gold/matrix-assisted laser desorption ionization-time of flight mass spectrometry (MALDI-TOF MS) technology in detecting LHON mutations...
2016: Molecular Vision
L Castillo, J Arruga
No abstract text is available yet for this article.
August 16, 2016: Archivos de la Sociedad Española de Oftalmología
Sandipan Datta, Alexey Tomilov, Gino Cortopassi
Inherited mitochondrial complex I mutations cause blinding Leber's hereditary optic neuropathy (LHON), for which no curative therapy exists. A specific biochemical consequence of LHON mutations in the presence of trace rotenone was observed: deficient complex I-dependent ATP synthesis (CIDAS) and mitochondrial O2 consumption, proportional to the clinical severity of the three primary LHON mutations. We optimized a high-throughput assay of CIDAS to screen 1600 drugs to 2, papaverine and zolpidem, which protected CIDAS in LHON cells concentration-dependently...
September 2016: Mitochondrion
David A Mackey, Lisa S Kearns, Alex W Hewitt
Leber hereditary optic neuropathy has now joined Leber congenital amaurosis in the list of genetic eye diseases undergoing gene therapy clinical trials. Although a dramatic response to treatment would be welcome, a minor improvement in vision is a major challenge in efficacy assessment, given this may occur spontaneously as part of the natural history of minor recovery in some patients. Thus, we must await the outcome of adequately powered clinical trials to know if the treatment is effective, particularly given the likely high cost of such therapeutic interventions in the future...
July 2016: Asia-Pacific Journal of Ophthalmology
Stephen J Moster, Mark L Moster, Molly Scannell Bryan, Robert C Sergott
PURPOSE: Describe changes in the retina as vision loss progresses in Leber's Hereditary Optic Neuropathy (LHON) using spectral-domain optical coherence tomography (SD-OCT) autosegmentation, and determine if relationship exists between retinal changes and vision loss. METHODS: From patient records we identified nine LHON patients who underwent periodic neuro-ophthalmologic examinations and high-resolution SD-OCT as part of their care. We describe the impact of LHON progression on each retinal layer, and the relationship between these structural changes and visual acuity using generalized estimating equations and nonparametric tests...
July 1, 2016: Investigative Ophthalmology & Visual Science
N L Sheremet, T A Nevinitsyna, N V Zhorzholadze, I A Ronzina, Y S Itkis, T D Krylova, P G Tsygankova, V A Malakhova, E Y Zakharova, A V Tokarchuk, A A Panteleeva, E M Karger, K G Lyamzaev, S E Avetisov
Leber's hereditary optic neuropathy (LHON) refers to a group of mitochondrial diseases and is characterized by defects of the mitochondrial electron transport chain and decreased level of oxidative phosphorylation. The list of LHON primary mtDNA mutations is regularly updated. In this study, we describe the homoplasmic nucleotide substitution m.3472T>C in the MT-ND1 (NADH-ubiquinone oxidoreductase chain 1) gene and specific changes in cell metabolism in a patient with LHON and his asymptomatic sister. To confirm the presence of mutation-related mitochondrial dysfunction, respiration of skin fibroblasts and platelets from the patient and his sister was studied, as well as the mitochondrial potential and production of reactive oxygen species in the skin fibroblasts...
July 2016: Biochemistry. Biokhimii︠a︡
Carl Ellenberger
This chapter can guide the use of imaging in the evaluation of common visual syndromes: transient visual disturbance, including migraine and amaurosis fugax; acute optic neuropathy complicating multiple sclerosis, neuromyelitis optica spectrum disorder, Leber hereditary optic neuropathy, and Susac syndrome; papilledema and pseudotumor cerebri syndrome; cerebral disturbances of vision, including posterior cerebral arterial occlusion, posterior reversible encephalopathy, hemianopia after anterior temporal lobe resection, posterior cortical atrophy, and conversion blindness...
2016: Handbook of Clinical Neurology
Pingping Jiang, Min Liang, Chaofan Zhang, Xiaoxu Zhao, Qiufen He, Limei Cui, Xiaoling Liu, Yan-Hong Sun, Qun Fu, Yanchun Ji, Yidong Bai, Taosheng Huang, Min-Xin Guan
Leber's hereditary optic neuropathy (LHON) is the most common mitochondrial disease. Mitochondrial modifiers are proposed to modify the phenotypic expression of primary LHON-associated mitochondrial DNA (mtDNA) mutations. In this study, we demonstrated that the LHON susceptibility allele (m.14502T>C, p. 58I>V) in the ND6 gene modulated the phenotypic expression of primary LHON-associated m.11778G>A mutation. Twenty-two Han Chinese pedigrees carrying m.14502T>C and m.11778G>A mutations exhibited significantly higher penetrance of optic neuropathy than those carrying only m...
July 17, 2016: Human Molecular Genetics
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