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Optic neuropathy

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https://www.readbyqxmd.com/read/29451992/optical-coherence-tomography-angiography-of-the-peripapillary-retina-in-normal-tension-glaucoma-and-chronic-nonarteritic-anterior-ischemic-optic-neuropathy
#1
Rodolfo Mastropasqua, Luca Agnifili, Enrico Borrelli, Vincenzo Fasanella, Lorenza Brescia, Luca Di Antonio, Leonardo Mastropasqua
PURPOSE: To analyze the retinal radial peripapillary capillary (RPC) network in normal-tension glaucoma (NTG) and nonarteritic anterior ischemic optic neuropathy (NAION) eyes using optical coherence tomography angiography (OCTA). MATERIAL AND METHODS: Twenty-two patients with NTG, 22 patients with unilateral chronic NAION, and 23 age-matched controls were enrolled. Patients underwent OCTA to obtain en face angiograms of the peripapillary region. The main outcome measures were as follows: (1) the whole en face image perfusion density (WPD) and (2) the circumpapillary perfusion density (CPD)...
February 16, 2018: Current Eye Research
https://www.readbyqxmd.com/read/29445944/diagnosis-and-treatment-of-anti-myelin-oligodendrocyte-glycoprotein-antibody-positive-optic-neuritis
#2
REVIEW
Takeshi Kezuka, Hitoshi Ishikawa
Anti-myelin-oligodendrocyte glycoprotein (MOG) antibody positive optic neuritis has been established as a new subset of optic neuropathy. Anti-MOG antibodies are usually measured by cell-based assay. Patients with anti-MOG antibody positive optic neuritis respond well to steroid therapy, and, while visual acuity outcomes are favorable, significant visual field defects remain. Furthermore, patients who are anti-MOG antibody positive have higher rates of recurrence compared to antibody negative patients. Based on these findings, anti-MOG antibody positive patients with optic neuritis have the characteristics of good visual outcomes, residual visual field defects, and high risk of recurrence...
February 14, 2018: Japanese Journal of Ophthalmology
https://www.readbyqxmd.com/read/29444077/peculiar-combinations-of-individually-non-pathogenic-missense-mitochondrial-dna-variants-cause-low-penetrance-leber-s-hereditary-optic-neuropathy
#3
Leonardo Caporali, Luisa Iommarini, Chiara La Morgia, Anna Olivieri, Alessandro Achilli, Alessandra Maresca, Maria Lucia Valentino, Mariantonietta Capristo, Francesca Tagliavini, Valentina Del Dotto, Claudia Zanna, Rocco Liguori, Piero Barboni, Michele Carbonelli, Veronica Cocetta, Monica Montopoli, Andrea Martinuzzi, Giovanna Cenacchi, Giuseppe De Michele, Francesco Testa, Anna Nesti, Francesca Simonelli, Anna Maria Porcelli, Antonio Torroni, Valerio Carelli
We here report on the existence of Leber's hereditary optic neuropathy (LHON) associated with peculiar combinations of individually non-pathogenic missense mitochondrial DNA (mtDNA) variants, affecting the MT-ND4, MT-ND4L and MT-ND6 subunit genes of Complex I. The pathogenic potential of these mtDNA haplotypes is supported by multiple evidences: first, the LHON phenotype is strictly inherited along the maternal line in one very large family; second, the combinations of mtDNA variants are unique to the two maternal lineages that are characterized by recurrence of LHON; third, the Complex I-dependent respiratory and oxidative phosphorylation defect is co-transferred from the proband's fibroblasts into the cybrid cell model...
February 14, 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29442245/retrobulbar-and-intraocular-blood-flow-in-anterior-ischaemic-optic-neuropathy-are-linked-to-the-functional-impairment
#4
David Kuerten, Matthias Fuest, Marion Bienert, Niklas Plange
PURPOSE: Evaluation of ocular haemodynamics in patients with acute non-arteritic anterior ischaemic optic neuropathy (NAION) by colour Doppler imaging and fluorescein angiography and correlation of blood flow parameters to visual field loss and visual acuity. METHODS: Blood flow velocities (peak systolic velocity (PSV), end-diastolic velocity (EDV)) of the ophthalmic artery (OA), central retinal artery (CRA) and nasal and temporal posterior ciliary arteries (PCAs) were measured via colour Doppler imaging...
February 13, 2018: International Ophthalmology
https://www.readbyqxmd.com/read/29440740/boston-keratoprosthesis-type-1-outcomes-of-the-first-38-cases-performed-at-moorfields-eye-hospital
#5
Chameen Samarawickrama, Nicholas Strouthidis, Mark R Wilkins
PURPOSE: To evaluate outcomes of Boston keratoprosthesis type 1 (K-Pro) surgery in a cohort of high-risk patients at Moorfields Eye Hospital. Our patients were referred to us at the end-point of their ocular disease. METHODS: A retrospective review of all K-Pro surgery performed between March 2011 and July 2015 with a minimum follow-up of 12 months. RESULTS: 39 eyes of 38 patients were included. Mean follow-up was 28.4 months (range: 12-56)...
February 14, 2018: Eye
https://www.readbyqxmd.com/read/29438261/is-nonarteritic-ischemic-optic-neuropathy-due-to-choroidal-compression-of-the-prelaminar-neurovascular-compartment-of-the-optic-nerve-head
#6
Christopher A Girkin
No abstract text is available yet for this article.
March 2018: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
https://www.readbyqxmd.com/read/29432334/mechanisms-of-glaucoma-in-exfoliation-syndrome
#7
Mineo Ozaki
The most important characteristic of exfoliation syndrome (XFS) is that it involves a greater risk of developing glaucoma. In comparison with other forms of open-angle glaucoma, exfoliation glaucoma (XFG) is more resistant to medical therapy and progresses faster. Possible pathological mechanisms of glaucoma development in XFS comprise: (1) elevated intraocular pressure (IOP) caused by functional impairment of aqueous humor outflow due to deposition of exfoliation material (XFM) in the trabecular meshwork and trabecular cell dysfunction, (2) XFS-associated connective tissue elastosis leading to structural and functional alterations of the lamina cribrosa which increases the vulnerability toward elevated IOP and development of glaucomatous optic neuropathy, (3) elevated IOP due to closure of the anterior chamber angle accompanied by forward displacement of the crystalline lens due to zonular weakness, (4) presumable primary functional impairment of retinal ganglion cells...
February 9, 2018: Journal of Glaucoma
https://www.readbyqxmd.com/read/29429414/rapidly-progressive-neovascular-glaucoma-following-coronary-artery-bypass-graft-surgery-in-a-patient-with-type-1-diabetes-mellitus-a-case-report
#8
Vasant Raman, Rosemary Lambley
BACKGROUND: Proliferative diabetic retinopathy leading to vitreous hemorrhage, tractional retinal detachment, and neovascular glaucoma is a major cause of severe sight impairment in adults of working age worldwide. Neovascular glaucoma occurs in 2.5% of patients with proliferative diabetic retinopathy, which is difficult to treat and often leads to blindness. Onset of neovascular glaucoma with rapid progression to blindness within a few weeks of a successful coronary artery bypass graft procedure is not known with this clinical entity...
February 12, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29429258/-clinical-features-of-chronic-relapsing-inflammatory-optic-neuropathy
#9
C Meng, C T Lai, Q L Yang, L Liu, J W Wang
Objective: To explore the clinical characteristics and prognosis of chronic relapsing inflammatory optic neuropathy (CRION). Methods: A retrospective analysis was conducted. Clinical features, disease course, prognosis and magnetic resonance imaging (MRI) of patients with CRION who were admitted to Department of Neurology between 2014 and 2016 were reviewed and analyzed. Results: Totally, there were 27 patients (10 males and 17 females), with an age range of 17-59 years. The disease duration was between 40 days and 8 years...
February 6, 2018: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/29427840/generation-of-patient-specific-induced-pluripotent-stem-cells-from-leber-s-hereditary-optic-neuropathy
#10
Huai-En Lu, Yi-Ping Yang, Yan-Ting Chen, You-Ren Wu, Chia-Lin Wang, Fu-Ting Tsai, De-Kuang Hwang, Tai-Chi Lin, Shih-Jen Chen, An-Guor Wang, Patrick C H Hsieh, Shih-Hwa Chiou
Leber's hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disease caused by homoplasmic point mutations in complex I subunit genes of mitochondrial DNA. In this report, we generated an induced pluripotent stem cell (iPSCs) line, TVGH-iPSC-010-09, from the peripheral blood mononuclear cells of a female patient with Leber's hereditary optic neuropathy (LHON) by using the Sendai-virus delivery system. The resulting iPSCs retained the disease-causing mitochondrial DNA mutation, expressed pluripotent markers and could differentiate into the three germ layers...
January 31, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29426586/safety-of-raav2-2-nd4-gene-therapy-for-leber-hereditary-optic-neuropathy
#11
Catherine Vignal, Scott Uretsky, Serge Fitoussi, Anne Galy, Laure Blouin, Jean-François Girmens, Samuel Bidot, Nitza Thomasson, Céline Bouquet, Sonia Valero, Sandrine Meunier, Jean-Philippe Combal, Bernard Gilly, Barrett Katz, José-Alain Sahel
No abstract text is available yet for this article.
February 6, 2018: Ophthalmology
https://www.readbyqxmd.com/read/29426449/structural-and-functional-degeneration-of-retinal-nerves-in-sibling-carriers-of-a-leber-s-hereditary-optic-neuropathy-mutation
#12
Richard A Manfready, Thomas R Hedges, Carlos E Mendoza-Santiesteban
No abstract text is available yet for this article.
February 2018: Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie
https://www.readbyqxmd.com/read/29420328/tacrolimus-optic-neuropathy
#13
Nailyn Rasool, Katherine Boudreault, Simmons Lessell, Sashank Prasad, Dean M Cestari
BACKGROUND: Tacrolimus (FK506, Prograf) is a potent immunosuppressant, which inhibits cytokine synthesis and blocks T-cell development. Optic neuropathy from tacrolimus toxicity is very uncommon but, when present, can result in severe vision loss. METHODS: Case series and review of the literature. RESULTS: We present 3 patients with tacrolimus optic neuropathy after bone marrow transplantation complicated by graft-vs-host disease and demonstrate the differing clinical and radiologic presentation of this presumed toxic optic neuropathy...
February 7, 2018: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
https://www.readbyqxmd.com/read/29420104/tocilizumab-as-first-treatment-option-in-optic-neuropathy-secondary-to-graves-orbitopathy
#14
I Pascual-Camps, R Molina-Pallete, M A Bort-Martí, J Todolí, E España-Gregori
Dysthyroid optic neuropathy (DON) is one of the complications that can affect Graves' orbitopathy (GO) patients. Its prevalence is estimated at less than 5%. It is usually treated with intravenous steroids, radiotherapy or orbital decompression. Tocilizumab has been proposed as a treatment option in cases of GO refractory to steroid treatment, with good clinical results. Our aim is to report the case of a patient with optic neuropathy secondary to GO treated with tocilizumab as primary treatment option.
February 8, 2018: Orbit
https://www.readbyqxmd.com/read/29410463/opa1-gene-therapy-prevents-retinal-ganglion-cell-loss-in-a-dominant-optic-atrophy-mouse-model
#15
Emmanuelle Sarzi, Marie Seveno, Camille Piro-Mégy, Lucie Elzière, Mélanie Quilès, Marie Péquignot, Agnès Müller, Christian P Hamel, Guy Lenaers, Cécile Delettre
Dominant optic atrophy (DOA) is a rare progressive and irreversible blinding disease which is one of the most frequent forms of hereditary optic neuropathy. DOA is mainly caused by dominant mutation in the OPA1 gene encoding a large mitochondrial GTPase with crucial roles in membrane dynamics and cell survival. Hereditary optic neuropathies are commonly characterized by the degeneration of retinal ganglion cells, leading to the optic nerve atrophy and the progressive loss of visual acuity. Up to now, despite increasing advances in the understanding of the pathological mechanisms, DOA remains intractable...
February 6, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29409479/orbital-radiotherapy-plus-three-wall-orbital-decompression-in-a-patient-with-rare-ocular-manifestations-of-thyroid-eye-disease-case-report
#16
Shuo Zhang, Yang Wang, Sisi Zhong, Xingtong Liu, Yazhuo Huang, Sijie Fang, Ai Zhuang, Yinwei Li, Jing Sun, Huifang Zhou, Xianqun Fan
BACKGROUND: Thyroid eye disease (TED) is a debilitating autoimmune orbital disease that is often a result of Graves' disease. Dysthyroid optic neuropathy (DON) is a rare but sight-threatening manifestation of TED with therapeutic challenges that can potentially lead to visual loss. CASE PRESENTATION: A 74-year-old man experienced active TED with extremely severe redness and swelling of the conjunctiva, loss of visual acuity and exacerbation of disfiguring proptosis...
February 6, 2018: BMC Endocrine Disorders
https://www.readbyqxmd.com/read/29408550/expression-and-activation-of-mitogen-activated-protein-kinases-in-the-optic-nerve-head-in-a-rat-model-of-ocular-hypertension
#17
Teresa Mammone, Glyn Chidlow, Robert J Casson, John P M Wood
BACKGROUND: Glaucoma is a leading cause of irreversible blindness manifesting as an age-related, progressive optic neuropathy with associated retinal ganglion cell (RGC) loss. Mitogen-activated protein kinases (MAPKs: p42/44 MAPK, SAPK/JNK, p38 MAPK) are activated in various retinal disease models and likely contribute to the mechanisms of RGC death. Although MAPKs play roles in the development of retinal pathology, their action in the optic nerve head (ONH), where the initial insult to RGC axons likely resides in glaucoma, remains unexplored...
February 2, 2018: Molecular and Cellular Neurosciences
https://www.readbyqxmd.com/read/29391572/obstructive-sleep-apnoea
#18
REVIEW
Sophie D West, Chris Turnbull
Obstructive sleep apnoea (OSA) is increasing in prevalence due to rising obesity. While OSA is a disorder primarily of the upper airway during sleep, its pathophysiological impact on other body systems is increasingly recognised. There has been interest in the prevalence of OSA in different ophthalmic conditions and possible causation has been postulated. As OSA is common, it can be expected that people with co-existent OSA will be found in any ophthalmic disease population studied. To determine with confidence the significance of finding patients with OSA in a particular cohort requires a well matched control group, ideally matched for age, obesity, gender and co-morbidities...
February 2, 2018: Eye
https://www.readbyqxmd.com/read/29390337/linezolid-associated-optic-neuropathy-in-a-pediatric-patient-with-mycobacterium-nonchromogenicum-a-case-report
#19
Napoleón González Saldaña, Diego Mauricio Galvis Trujillo, Ana Maria Borbolla Pertierra, Ana Ivette Mondragón Pineda, Hugo Juárez Olguín
BACKGROUND: Toxic optic neuropathies are alterations of the optic nerve and can be caused by environmental, pharmacological, or nutritional agents. CASE: It is about a 7-year-old male patient, a native of the State of Mexico, Mexico who was diagnosed with cervical mycobacterial lymphadenitis that required management with linezolid. OBSERVATIONS: After 7 months of treatment, visual acuity of the left eye decreased and was accompanied by headache...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29388319/clinical-heterogeneity-of-mitochondrial-nad-kinase-deficiency-caused-by-a-nadk2-start-loss-variant
#20
Daniel J Pomerantz, Sacha Ferdinandusse, Joy Cogan, David N Cooper, Tyler Reimschisel, Amy Robertson, Anna Bican, Tracy McGregor, Jackie Gauthier, David S Millington, Jaime L W Andrae, Michael R Tschannen, Daniel C Helbling, Wendy M Demos, Simone Denis, Ronald J A Wanders, John N Newman, Rizwan Hamid, John A Phillips
Mitochondrial NAD kinase deficiency (NADK2D, OMIM #615787) is a rare autosomal recessive disorder of NADPH biosynthesis that can cause hyperlysinemia and dienoyl-CoA reductase deficiency (DECRD, OMIM #616034). NADK2 deficiency has been reported in only three unrelated patients. Two had severe, unremitting disease; one died at 4 months and the other at 5 years of age. The third was a 10 year old female with CNS anomalies, ataxia, and incoordination. In two cases mutations in NADK2 have been demonstrated. Here, we report the fourth known case, a 15 year old female with normal intelligence and a mild clinical and biochemical phenotype presumably without DECRD...
February 1, 2018: American Journal of Medical Genetics. Part A
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