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Leber's hereditary optic

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https://www.readbyqxmd.com/read/28630220/beyond-cervical-lipomas-myoclonus-gait-disorder-and-multisystem-involvement-leading-to-mitochondrial-disease
#1
Roberto López-Blanco, Ana Rojo-Sebastián, Maria Henedina Torregrosa-Martínez, Alberto Blazquez
Madelung's disease (benign symmetric lipomatosis) is a rare syndrome in which there are multiple lipomas around the neck, upper limbs and trunk in the context of chronic alcoholism. We report on a female patient with lipomas and slightly progressive myoclonus, neuropathy, myopathy, ataxia and respiratory systemic involvement (labelled in the past as Madelung's disease). Multisystem involvement and family history of lipomas led to the development of mitochondrial genetic tests, which can assess two concurrent mitochondrial mutations: the m...
June 19, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28579746/psychological-morbidity-in-leber-s-hereditary-optic-neuropathy-depends-on-phenotypic-social-economic-and-genetic-factors
#2
COMMENT
Josef Finsterer, Sinda Zarrouk-Mahjoub
No abstract text is available yet for this article.
2017: Clinical Ophthalmology
https://www.readbyqxmd.com/read/28528823/presymptomatic-visual-loss-in-leber-hereditary-optic-neuropathy-a%C3%A2-therapeutic-window-of-opportunity
#3
EDITORIAL
John J Chen, Michael C Brodsky
No abstract text is available yet for this article.
June 2017: Ophthalmology
https://www.readbyqxmd.com/read/28515908/renal-manifestations-of-primary-mitochondrial-disorders
#4
Josef Finsterer, Fulvio Alexandre Scorza
The aim of the present review was to summarize and discuss previous findings concerning renal manifestations of primary mitochondrial disorders (MIDs). A literature review was performed using frequently used databases. The study identified that primary MIDs frequently present as mitochondrial multiorgan disorder syndrome (MIMODS) at onset or in the later course of the MID. Occasionally, the kidneys are affected in MIDs. Renal manifestations of MIDs include renal insufficiency, nephrolithiasis, nephrotic syndrome, renal cysts, renal tubular acidosis, Bartter-like syndrome, Fanconi syndrome, focal segmental glomerulosclerosis, tubulointerstitial nephritis, nephrocalcinosis, and benign or malign neoplasms...
May 2017: Biomedical Reports
https://www.readbyqxmd.com/read/28459737/vision-loss-and-symmetric-basal-ganglia-lesions-in-leber-hereditary-optic-neuropathy
#5
Matthew A Mercuri, Halina White, Cristiano Oliveira
A 30-year-old woman with progressive vision loss was found to have asymptomatic, bilateral, and symmetric basal ganglia lesions on MRI and was later diagnosed with Leber hereditary optic neuropathy (LHON). The rare occurrence of basal ganglia changes on MRI in patients with LHON is discussed.
April 28, 2017: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
https://www.readbyqxmd.com/read/28455970/mitochondrial-replacement-in-an-ipsc-model-of-leber-s-hereditary-optic-neuropathy
#6
Raymond C B Wong, Shiang Y Lim, Sandy S C Hung, Stacey Jackson, Shahnaz Khan, Nicole J Van Bergen, Elisabeth De Smit, Helena H Liang, Lisa S Kearns, Linda Clarke, David A Mackey, Alex W Hewitt, Ian A Trounce, Alice Pébay
Cybrid technology was used to replace Leber hereditary optic neuropathy (LHON) causing mitochondrial DNA (mtDNA) mutations from patient-specific fibroblasts with wildtype mtDNA, and mutation-free induced pluripotent stem cells (iPSCs) were generated subsequently. Retinal ganglion cell (RGC) differentiation demonstrates increased cell death in LHON-RGCs and can be rescued in cybrid corrected RGCs.
April 2017: Aging
https://www.readbyqxmd.com/read/28444329/the-eye-drop-preservative-benzalkonium-chloride-potently-induces-mitochondrial-dysfunction-and-preferentially-affects-lhon-mutant-cells
#7
Sandipan Datta, Christophe Baudouin, Francoise Brignole-Baudouin, Alexandre Denoyer, Gino A Cortopassi
Purpose: Benzalkonium chloride (BAK) is the most commonly used eye drop preservative. Benzalkonium chloride has been associated with toxic effects such as "dry eye" and trabecular meshwork degeneration, but the underlying biochemical mechanism of ocular toxicity by BAK is unclear. In this study, we propose a mechanistic basis for BAK's adverse effects. Method: Mitochondrial O2 consumption rates of human corneal epithelial primary cells (HCEP), osteosarcoma cybrid cells carrying healthy (control) or Leber hereditary optic neuropathy (LHON) mutant mtDNA [11778(G>A)], were measured before and after acute treatment with BAK...
April 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28412540/melanopsin-expressing-retinal-ganglion-cells-are-resistant-to-cell-injury-but-not-always
#8
Birgitte Georg, Anna Ghelli, Carla Giordano, Fred N Ross-Cisneros, Alfredo A Sadun, Valerio Carelli, Jens Hannibal, Chiara La Morgia
Melanopsin retinal ganglion cells (mRGCs) are intrinsically photosensitive RGCs deputed to non-image forming functions of the eye such as synchronization of circadian rhythms to light-dark cycle. These cells are characterized by unique electrophysiological, anatomical and biochemical properties and are usually more resistant than conventional RGCs to different insults, such as axotomy and different paradigms of stress. We also demonstrated that these cells are relatively spared compared to conventional RGCs in mitochondrial optic neuropathies (Leber's hereditary optic neuropathy and Dominant Optic Atrophy)...
April 12, 2017: Mitochondrion
https://www.readbyqxmd.com/read/28403426/high-mitochondrial-dna-copy-number-is-a-protective-factor-from-vision-loss-in-heteroplasmic-leber-s-hereditary-optic-neuropathy-lhon
#9
MULTICENTER STUDY
Angelica Bianco, Luigi Bisceglia, Luciana Russo, Luigi L Palese, Leonardo D'Agruma, Sonia Emperador, Julio Montoya, Silvana Guerriero, Vittoria Petruzzella
Purpose: Leber's hereditary optic neuropathy (LHON) is a mitochondrial disease that typically causes bilateral blindness in young men. It is characterized by as yet undisclosed genetic and environmental factors affecting the incomplete penetrance. Methods: We identified 27 LHON subjects who possess heteroplasmic primary LHON mutations. Mitochondrial DNA (mtDNA) copy number was evaluated. Results: The presence of centrocecal scotoma, an edematous, hyperemic optic nerve head, and vascular tortuosity, as well as telangiectasia was recognized in affected subjects...
April 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28392196/nationwide-epidemiological-survey-of-leber-hereditary-optic-neuropathy-in-japan
#10
Kaori Ueda, Yuki Morizane, Fumio Shiraga, Keigo Shikishima, Hitoshi Ishikawa, Masato Wakakura, Makoto Nakamura
BACKGROUND: Leber hereditary optic neuropathy (LHON) is a maternally inherited optic neuropathy that leads to central loss of vision, predominantly in young males. Most LHON cases have one of three primary point mutations in mitochondrial DNA (mtDNA). The annual incidence and prevalence of LHON in Japan are not known. Thus, we estimated the annual incidence of molecularly confirmed LHON in Japan during 2014. METHODS: Sequential questionnaires were sent to 1397 facilities, which included all of the university hospitals in Japan, and they were certified by either the Japanese Ophthalmological Society or the Japanese Neuro-Ophthalmological Society...
April 6, 2017: Journal of Epidemiology
https://www.readbyqxmd.com/read/28348633/differentiating-leber-hereditary-optic-neuropathy-from-normal-tension-glaucoma
#11
Fernanda Maria Silveira Souto, José Paulo Cabral de Vasconcellos, Mônica Barbosa de Melo, Edi Lúcia Sartorato, Frederico Castelo Moura
Glaucoma is a neurodegenerative disorder characterized by thinning of neuroretinal rim, enlarged cup-to-disc ratio (CDR) and visual field damage. Although raised intraocular pressure is main risk factor for development of glaucoma, it can occur with consistently normal measurements in the intraocular pressure as normal tension glaucoma (NTG). Enlargement of CDR is a classical sign of glaucoma, but it can also result from non-glaucomatous optic neuropathies such as Leber hereditary optic neuropathy (LHON). We describe a case of LHON with increased CDR, discuss its differential diagnosis with NTG and highlight the reasons for misdiagnoses between these two entities...
April 2017: Neuro-ophthalmology
https://www.readbyqxmd.com/read/28314831/childhood-onset-leber-hereditary-optic-neuropathy
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
K Konieczka, J Flammer, J Sternbuch, T Binggeli, S Fraenkl
No abstract text is available yet for this article.
April 2017: Klinische Monatsblätter Für Augenheilkunde
https://www.readbyqxmd.com/read/28139165/leber-hereditary-optic-neuropathy-due-to-a-new-nd1-mutation
#20
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
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