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Optic neuropathy

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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
#1
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/28079833/the-rare-ethambutol-induced-optic-neuropathy-a-case-report-and-literature-review
#2
Wei Song, Shancheng Si
RATIONALE: Ethambutol-induced optic neuropathy (EON) is a well-known complication that results from the use of ethambutol. The ocular manifestations of EON include painless loss of central vision and cecocentral scotomas in the visual field. PATIENT CONCERNS: A 75-year-old Chinese Han man suffered from this rare ocular disorder because he took ethambutol for about 8 months. DIAGNOSES: He was diagnosed as EON based on series of ophthalmic examinations performed...
January 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28078992/smoking-and-eye-pathologies-a-systemic-review-part-ii-retina-diseases-uveitis-optic-neuropathies-thyroid-associated-orbitopathy
#3
Małgorzata Nita, Andrzej Grzybowski
BACKGROUND: Tobacco smoking has detrimental influence on human health. AIM: The analysis of influence of tobacco smoking on retina diseases, uveitis, optic neuropathies, and thyroid-associated orbitopathy in adults and children. METHODS: A comprehensive review of the literature performed through MEDLINE and PubMed searches, covering the years 2000-2016. RESULTS: In adults, tobacco smoking is a strong risk factor for age-related macular degeneration, polypoidal choroidal vasculopathy, uveitis and inflamed cystoid macular edema as well as Grave`s ophthalmopathy...
January 10, 2017: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/28073927/new-insights-into-the-genetics-of-primary-open-angle-glaucoma-based-on-meta-analyses-of-intraocular-pressure-and-optic-disc-characteristics
#4
Henriët Springelkamp, Adriana I Iglesias, Aniket Mishra, René Höhn, Robert Wojciechowski, Anthony P Khawaja, Abhishek Nag, Ya Xing Wang, Jie Jin Wang, Gabriel Cuellar-Partida, Jane Gibson, Jessica N Cooke Bailey, Eranga N Vithana, Puya Gharahkhani, Thibaud Boutin, Wishal D Ramdas, Tanja Zeller, Robert N Luben, Ekaterina Yonova-Doing, Ananth C Viswanathan, Seyhan Yazar, Angela J Cree, Jonathan L Haines, Jia Yu Koh, Emmanuelle Souzeau, James F Wilson, Najaf Amin, Christian Müller, Cristina Venturini, Lisa S Kearns, Jae Hee Kang, Neighborhood Consortium, Yih Chung Tham, Tiger Zhou, Elisabeth M van Leeuwen, Stefan Nickels, Paul Sanfilippo, Jiemin Liao, Herma van der Linde, Wanting Zhao, Leonieke M E van Koolwijk, Li Zheng, Fernando Rivadeneira, Mani Baskaran, Sven J van der Lee, Shamira Perera, Paulus T V M de Jong, Ben A Oostra, André G Uitterlinden, Qiao Fan, Albert Hofman, E- Shyong Tai, Johannes R Vingerling, Xueling Sim, Roger C W Wolfs, Yik Ying Teo, Hans G Lemij, Chiea Chuen Khor, Rob Willemsen, Karl J Lackner, Tin Aung, Nomdo M Jansonius, Grant Montgomery, Philipp S Wild, Terri L Young, Kathryn P Burdon, Pirro G Hysi, Louis R Pasquale, Tien Yin Wong, Caroline C W Klaver, Alex W Hewitt, Jost B Jonas, Paul Mitchell, Andrew J Lotery, Paul J Foster, Veronique Vitart, Norbert Pfeiffer, Jamie E Craig, David A Mackey, Christopher J Hammond, Janey L Wiggs, Ching-Yu Cheng, Cornelia M van Duijn, Stuart MacGregor
Primary open-angle glaucoma (POAG), the most common optic neuropathy, is a heritable disease. Siblings of POAG cases have a ten-fold increase risk of developing the disease. Intraocular pressure (IOP) and optic nerve head characteristics are used clinically to predict POAG risk. We conducted a genome-wide association meta-analysis of IOP and optic disc parameters and validated our findings in multiple sets of POAG cases and controls. Using imputation to the 1000 genomes (1000G) reference set, we identified 9 new genomic regions associated with vertical cup disc ratio (VCDR) and 1 new region associated with IOP...
January 10, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28073365/neurophthalmological-conditions-mimicking-glaucomatous-optic-neuropathy-analysis-of-the-most-common-causes-of-misdiagnosis
#5
Diego Torres Dias, Michele Ushida, Roberto Battistella, Syril Dorairaj, Tiago Santos Prata
BACKGROUND: To analyze the most common neurophthalmological conditions that may mimic glaucomatous optic neuropathy and to determine which most often lead to misdiagnosis when evaluated by a glaucoma specialist. METHODS: We reviewed the charts of consecutive patients with optic neuropathies caused by neurophthalmological conditions screened in a single Eye Clinic within a period of 24 months. Within these enrolled patients, we selected the eyes whose fundoscopic appearance could resemble glaucoma based in pre-defined criteria (vertical cup-to-disc ratio ≥0...
January 10, 2017: BMC Ophthalmology
https://www.readbyqxmd.com/read/28069784/short-term-treatment-with-oral-amiodarone-resulting-in-bilateral-optic-neuropathy-and-permanent-blindness
#6
Arnon Knudsen
A 66-year-old man was hospitalised due to worsening of his atrial fibrillation, and successfully underwent an electrocardioversion to restore sinus rhythm. He was discharged with a prescription of 600 mg amiodarone daily to retain the sinus rhythm prospectively. 3 weeks after discharge, he noticed that his vision became blurry with cloudy areas spreading throughout his field of view on both eyes simultaneously. The visual symptoms gradually worsened throughout the following 5 months, and the patient was hospitalised in the department of ophthalmology...
January 9, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28060361/preoperative-clinical-features-of-reactivated-of-graves-orbitopathy-after-orbital-decompression
#7
Y J Woo, J W Kim, J S Yoon
PurposeTo investigate the incidence and preoperative clinical features of reactivated Graves' orbitopathy (GO) after orbital decompression.MethodsThis study included patients with GO who underwent orbital decompression for disfiguring proptosis and not compressive optic neuropathy and received postoperative follow-up care for more than 12 months. Patients who experienced active inflammatory signs within 6 months of decompression were excluded from analysis. The demographic characteristics, ophthalmic manifestations, and biochemical parameters of the patients were analyzed for association with reactivation of GO by logistic regression analysis...
January 6, 2017: Eye
https://www.readbyqxmd.com/read/28057645/optical-coherence-tomography-angiography-in-acute-non-arteritic-anterior-ischaemic-optic-neuropathy
#8
Sourabh Sharma, Marcus Ang, Raymond P Najjar, Chelvin Sng, Carol Y Cheung, Annadata V Rukmini, Leopold Schmetterer, Dan Milea
PURPOSE: To characterise vascular changes in eyes with acute non-arteritic anterior ischaemic optic neuropathy (NAION), using optical coherence tomography angiography (OCT-A) imaging. METHODS: This hospital-based observational case-control study included included five patients with acute NAION (6 eyes), within 7 days after onset of symptoms and 19 age-matched healthy controls (19 eyes). OCT-A (RTVue XR 100; Optovue, Fremont, California, USA), covering a 4.5×4...
January 5, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/28050599/optic-atrophy-cataracts-lipodystrophy-lipoatrophy-and-peripheral-neuropathy-caused-by-a-de-novo-opa3-mutation
#9
Stephanie C Bourne, Katelin N Townsend, Casper Shyr, Allison Matthews, Scott A Lear, Raj Attariwala, Anna Lehman, Wyeth W Wasserman, Clara van Karnebeek, Graham Sinclair, Hilary Vallance, William T Gibson
We describe a woman who presented with cataracts, optic atrophy, lipodystrophy/lipoatrophy, and peripheral neuropathy. Exome sequencing identified a c.235C > G p.(Leu79Val) variant in the optic atrophy 3 (OPA3) gene that was confirmed to be de novo. This report expands the severity of the phenotypic spectrum of autosomal dominant OPA3 mutations.
January 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28040497/a-review-of-mitochondrial-optic-neuropathies-from-inherited-to-acquired-forms
#10
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/28039596/optic-neuritis-secondary-to-antiandrogen-therapy
#11
REVIEW
Á Ní Mhéalóid, G Cunniffe
BACKGROUND: Optic neuropathy is a disorder characterised by dysfunction or destruction of the optic nerve tissues. Acquired causes include interruption in the blood supply, nutritional deficiency, compression by a tumour or aneurysm, trauma, and toxic types (Ambizas and Patel In US Pharm 36(4):HS2-HS6, 1). Drug-induced optic neuropathy is of the toxic type and can be defined as a clinical syndrome characterised by papillomacular bundle damage, central, or cecocentral scotoma, and reduced colour vision (Ambizas and Patel In US Pharm 36(4):HS2-HS6, 2011; Sharma and Sharma In Indian J Ophthalmol 59(2):137-141, 2)...
December 30, 2016: Irish Journal of Medical Science
https://www.readbyqxmd.com/read/28035529/hereditary-retinal-dystrophy
#12
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/28031252/compound-heterozygosity-for-severe-and-hypomorphic-ndufs2-mutations-cause-non-syndromic-lhon-like-optic-neuropathy
#13
Sylvie Gerber, Martina G Ding, Xavier Gérard, Klaus Zwicker, Xavier Zanlonghi, Marlène Rio, Valérie Serre, Sylvain Hanein, Arnold Munnich, Agnès Rotig, Lucas Bianchi, Patrizia Amati-Bonneau, Orly Elpeleg, Josseline Kaplan, Ulrich Brandt, Jean-Michel Rozet
BACKGROUND: Non-syndromic hereditary optic neuropathy (HON) has been ascribed to mutations in mitochondrial fusion/fission dynamics genes, nuclear and mitochondrial DNA-encoded respiratory enzyme genes or nuclear genes of poorly known mitochondrial function. However, the disease causing gene remains unknown in many families. The objective of the present study was to identify the molecular cause of non-syndromic LHON-like disease in siblings born to non-consanguineous parents of French origin...
December 28, 2016: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28030545/longitudinal-analysis-of-serum-autoantibody-reactivities-in-patients-with-primary-open-angle-glaucoma-and-optic-disc-hemorrhage
#14
Katrin Lorenz, Sabine Beck, Munir M Keilani, Joanna Wasielica-Poslednik, Norbert Pfeiffer, Franz H Grus
BACKGROUND: The aim of our current investigation was to analyze the autoantibody-reactivities of primary open angle glaucoma patients with optic disc hemorrhage as possibly correlated to disease progression by means of a protein microarray approach. METHODS: Sera of patients with primary open angle glaucoma and optic disc hemorrhage (n = 16) were collected directly after study inclusion (0 weeks) and after 2 weeks, 4 weeks and 12 weeks. As a control group patients with primary open angle glaucoma (n = 18) were used (0 weeks and 12 weeks)...
2016: PloS One
https://www.readbyqxmd.com/read/28029908/pathology-of-ischemic-optic-neuropathy
#15
Hershel R Patel, Curtis E Margo
Ischemic optic neuropathy (ION) describes a state of hypoxic injury of the optic nerve. Clinically, ION is divided into anterior and posterior forms defined by the presence or absence of optic disc swelling, respectively. It is further classified as arteritic when secondary to vasculitis, and nonarteritic when not. The site of vascular occlusion for anterior ION from giant cell arteritis is the short posterior ciliary arteries, but mechanical vascular obstruction does not play a role in most nonarteritic cases...
January 2017: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/28027978/in-silico-analysis-for-predicting-pathogenicity-of-five-unclassified-mitochondrial-dna-mutations-associated-with-mitochondrial-cytophaties-phenotypes
#16
Mafalda Bacalhau, João Pratas, Marta Simões, Cândida Mendes, Carolina Ribeiro, Maria J Santos, Luisa Diogo, Maria Carmo Macário, Manuela Grazina
Mitochondrial DNA (mtDNA) mutations have been assigned as a major cause of genetic disease. When a novel sequence variation is found, it is necessary to evaluate its functional impact, usually requiring functional molecular studies. Given the fact that this approach is difficult to put in practice in a routine basis, it is possible to take advantage of the in silico tools available and predict protein/RNA structure changes and therefore pathogenicity. Here, we describe the characterization of five undescribed mtDNA variants, upon detection of 23 unclassified alterations at Laboratory of Biochemical Genetics, from 2004 to 2014...
December 24, 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28027875/bipolar-cell-reduction-precedes-retinal-ganglion-neuron-loss-in-a-complex-1-knockout-mouse-model
#17
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...
December 24, 2016: Brain Research
https://www.readbyqxmd.com/read/28027538/the-arguments-for-and-against-cannabinoids-application-in-glaucomatous-retinopathy
#18
REVIEW
Yunes Panahi, Azadeh Manayi, Marjan Nikan, Mahdi Vazirian
Glaucoma represents several optic neuropathies leading to irreversible blindness through progressive retinal ganglion cell (RGC) loss. Reduction of intraocular pressure (IOP) is known as the only modifiable factor in the treatment of this disorder. Application of exogenous cannabinoids to lower IOP has attracted attention of scientists as potential agents for the treatment of glaucoma. Accordingly, neuroprotective effect of these agents has been recently described through modulation of endocannabinoid system in the eye...
December 24, 2016: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/28017420/comparison-of-visual-outcomes-of-nonarteritic-anterior-ischemic-optic-neuropathy-in-patients-with-and-without-diabetes-mellitus
#19
Srilakshmi Sharma, Sarah Kwan, Katherine A Fallano, Jiangxia Wang, Neil R Miller, Prem S Subramanian
PURPOSE: Diabetic patients have a greater risk of nonarteritic anterior ischemic optic neuropathy (NAION) than nondiabetic patients. We compare visual outcomes, prevalence of bilateral/sequential ION, and predictors of visual outcomes in NAION between diabetic and nondiabetic patients. DESIGN: Case-control study. PARTICIPANTS: All 231 patients with NAION seen by the Neuro-Ophthalmology Service, Wilmer Eye Institute, between 2002 and 2011 were screened for study inclusion...
December 22, 2016: Ophthalmology
https://www.readbyqxmd.com/read/28005675/swept-source-optical-coherence-tomography-angiography-of-the-optic-disk-in-optic-neuropathy
#20
Khalil Ghasemi Falavarjani, Jack J Tian, Handan Akil, Giancarlo A Garcia, Srinivas R Sadda, Alfredo A Sadun
PURPOSE: To evaluate the optic nerve head microvasculature in eyes with acute and chronic optic neuropathies using swept-source optical coherence tomography angiography. METHODS: In this cross-sectional, observational study, optical coherence tomography angiography images were obtained from the optic nerve heads of 21 eyes of 12 patients with optic disk edema, pseudoedema and atrophy, and 12 eyes of 6 healthy subjects using a 1,050-nm optical coherence tomography angiography (Topcon DRI OCT; Triton)...
December 2016: Retina
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