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Optic nerve atrophy

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https://www.readbyqxmd.com/read/28920886/retinal-layer-segmentation-in-multiple-sclerosis-a-systematic-review-and-meta-analysis
#1
Axel Petzold, Laura J Balcer, Peter A Calabresi, Fiona Costello, Teresa C Frohman, Elliot M Frohman, Elena H Martinez-Lapiscina, Ari J Green, Randy Kardon, Olivier Outteryck, Friedemann Paul, Sven Schippling, Patrik Vermersch, Pablo Villoslada, Lisanne J Balk
BACKGROUND: Structural retinal imaging biomarkers are important for early recognition and monitoring of inflammation and neurodegeneration in multiple sclerosis. With the introduction of spectral domain optical coherence tomography (SD-OCT), supervised automated segmentation of individual retinal layers is possible. We aimed to investigate which retinal layers show atrophy associated with neurodegeneration in multiple sclerosis when measured with SD-OCT. METHODS: In this systematic review and meta-analysis, we searched for studies in which SD-OCT was used to look at the retina in people with multiple sclerosis with or without optic neuritis in PubMed, Web of Science, and Google Scholar between Nov 22, 1991, and April 19, 2016...
October 2017: Lancet Neurology
https://www.readbyqxmd.com/read/28902089/new-insights-in-vanishing-white-matter-disease-isolated-bilateral-optic-neuropathy-in-adult-onset-disease
#2
Sandra R Barros, Sónia C R Parreira, Ana F B Miranda, Ana M B Pereira, Nuno M P Campos
BACKGROUND: Vanishing white matter disease (VWMD) is a rare disease affecting cerebral white matter. The adult form is even rarer and manifests with motor symptoms, behavioral problems, and dementia. There is no treatment and progression is inevitable. We describe a case with atypical manifestations and an unusual course. METHODS: Description of a 42-year-old man with VWMD complaining of progressive visual loss in the right eye. RESULTS: The patient's visual acuity was 20/60, right eye, and 20/25, left eye, with pale optic nerves bilaterally...
September 7, 2017: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
https://www.readbyqxmd.com/read/28887838/diagnostic-accuracy-of-optical-coherence-tomography-inter-eye-percentage-difference-iepd-for-optic-neuritis-in-multiple-sclerosis
#3
Danko Coric, Lisanne J Balk, Bernard M J Uitdehaag, Axel Petzold
BACKGROUND: Multiple sclerosis (MS) associated optic neuritis (MSON) causes atrophy of the inner retinal layers, which can be quantified by optical coherence tomography (OCT). It has been suggested that the Inter-Eye Percentage Difference (IEPD) of atrophy may be of diagnostic value in MSON. METHODS: Prospective, cross-sectional study in MS patients and healthy controls (HC). Spectral-domain OCT of both eyes was performed, followed by automated retinal layer segmentation of the peripapillary retinal nerve fibre layer (pRNFL) and macular ganglion cell and inner plexiform layer (mGCIPL)...
September 8, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28867885/serious-visual-ocular-complications-in-pre-eclampsia-and-eclampsia
#4
Thangappah Radha Bai Prabhu
INTRODUCTION: Complete loss of vision is an uncommon ocular complication of pre-eclampsia/eclampsia. The conditions which lead to visual loss in pre-eclampsia include cortical blindness, retinal detachment, retinal vascular thrombosis and optic nerve atrophy. OBJECTIVES: The objective was to describe the cause, clinical course and prognosis in blindness complicating pre-eclampsia. METHODOLOGY: This is a prospective observational study conducted at the Govt...
October 2017: Journal of Obstetrics and Gynaecology of India
https://www.readbyqxmd.com/read/28860598/wfs1-deficient-rats-develop-primary-symptoms-of-wolfram-syndrome-insulin-dependent-diabetes-optic-nerve-atrophy-and-medullary-degeneration
#5
Mario Plaas, Kadri Seppa, Riin Reimets, Toomas Jagomäe, Maarja Toots, Tuuliki Koppel, Tuuli Vallisoo, Mait Nigul, Indrek Heinla, Riho Meier, Allen Kaasik, Andres Piirsoo, Miriam A Hickey, Anton Terasmaa, Eero Vasar
Wolfram syndrome (WS) is a rare autosomal-recessive disorder that is caused by mutations in the WFS1 gene and is characterized by juvenile-onset diabetes, optic atrophy, hearing loss and a number of other complications. Here, we describe the creation and phenotype of Wfs1 mutant rats, in which exon 5 of the Wfs1 gene is deleted, resulting in a loss of 27 amino acids from the WFS1 protein sequence. These Wfs1-ex5-KO232 rats show progressive glucose intolerance, which culminates in the development of diabetes mellitus, glycosuria, hyperglycaemia and severe body weight loss by 12 months of age...
August 31, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28856555/retinal-thickness-as-a-marker-of-disease-progression-in-longitudinal-observation-of-patients-with-wolfram-syndrome
#6
Agnieszka Zmyslowska, Wojciech Fendler, Arleta Waszczykowska, Anna Niwald, Maciej Borowiec, Piotr Jurowski, Wojciech Mlynarski
AIMS: Wolfram syndrome (WFS) is a recessively inherited monogenic form of diabetes coexisting with optic atrophy and neurodegenerative disorders with no currently recognized markers of disease progression. The aim of the study was to evaluate retinal parameters by using optical coherence tomography (OCT) in WFS patients after 2 years of follow-up and analysis of the parameters in relation to visual acuity. METHODS: OCT parameters and visual acuity were measured in 12 WFS patients and 31 individuals with type 1 diabetes...
August 30, 2017: Acta Diabetologica
https://www.readbyqxmd.com/read/28835424/compressed-3d-and-2d-digital-images-versus-standard-3d-slide-film-for-the-evaluation-of-glaucomatous-optic-nerve-features
#7
Simrenjeet Sandhu, Chris Rudnisky, Sourabh Arora, Faazil Kassam, Gordon Douglas, Marianne C Edwards, Karin Verstraten, Beatrice Wong, Karim F Damji
SYNOPSIS: Clinicians can feel confident compressed three-dimensional digital (3DD) and two-dimensional digital (2DD) imaging evaluating important features of glaucomatous disc damage is comparable to the previous gold standard of stereoscopic slide film photography, supporting the use of digital imaging for teleglaucoma applications. BACKGROUND/AIMS: To compare the sensitivity and specificity of 3DD and 2DD photography with stereo slide film in detecting glaucomatous optic nerve head features...
August 23, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/28832670/peripapillary-retinal-splitting-visualized-on-oct-in-glaucoma-and-glaucoma-suspect-patients
#8
Dilraj S Grewal, Daniel J Merlau, Pushpanjali Giri, Marion R Munk, Amani A Fawzi, Lee M Jampol, Angelo P Tanna
PURPOSE: To identify the risk factors for development of peripapillary retinal splitting (schisis) in patients with glaucoma or suspicion of glaucoma. SETTING: Glaucoma Clinic, Department of Ophthalmology, Northwestern University Feinberg School of Medicine, Chicago, IL. METHODS: In this institutional cross-sectional study, 495 patients (990 eyes) who had undergone spectral-domain optical coherence tomography (OCT Spectralis HRA-OCT, Heidelberg Engineering) optic nerve head (ONH) imaging and did not have identifiable optic nerve pits, pseudopits or coloboma were included...
2017: PloS One
https://www.readbyqxmd.com/read/28820624/retinopathy-and-optic-atrophy-expanding-the-phenotypic-spectrum-of-pathogenic-variants-in-the-aars2-gene
#9
Jason H Peragallo, Stephanie Keller, Marjo S van der Knaap, Bruno P Soares, Suma P Shankar
BACKGROUND: Optic atrophy may be the sequela of optic nerve injury due to any insult, including isolated and syndromic genetic diseases. Alanyl-tRNA synthetase 2 (AARS2) pathogenic variants have been reported to cause leukodystrophy with ovarian failure, and cardiomyopathy (#615889) as well as combined oxidative phosphorylation deficiency-8 (#614096). We report a young child who presented with decreased vision due to optic atrophy and was found to harbor missense variants in the AARS2 gene expanding the phenotypic expression of the AARS2 gene...
August 18, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28820161/ocular-morbidity-patterns-among-children-in-schools-for-the-blind-in-chennai
#10
M Vs Prakash, S Sivakumar, Ashutosh Dayal, A Chitra, Sudharshini Subramaniam
PURPOSE: To identify the morbidity patterns causing blindness in children attending schools for the blind in Chennai and comparing our data with similar studies done previously. METHODS: A cross-sectional prevalence study was carried out in two schools for the blind in Chennai. Blind schools were visited by a team of ophthalmologists and optometrists. Students with best-corrected visual acuity (BCVA) worse than 3/60 in the better eye were included and relevant history was noted...
August 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28798362/a-large-family-with-inherited-optic-disc-anomalies-a-correlation-between-a-new-genetic-locus-and-complex-ocular-phenotypes
#11
Decai Wang, Xinyuan Pan, Jiangdong Ji, Shun Gu, Xiantao Sun, Chao Jiang, Weiyi Xia, Zhihua Qiu, Xiaoli Kang, Sijia Ding, Qinghuai Liu, Xue Chen, Fang Lu, Chen Zhao
Congenital cavitary optic disc anomalies (CODA) is clinically typified by an enlarged excavation of optic disc in diverse degrees. Here, we report the clinical and genetic findings in a four-generation Chinese family with a complicated form of autosomal dominant CODA. Cardinal manifestations included bilateral excavated optic disc with multiple cilioretinal vessels emerging and bilateral retinoschisis with great variability in the range of extension and severity. Other intra-familial phenotypic diversities were also noted, including severity in retinal atrophy, onset age of visual impairment and presence of congenital nystagmus and strabismus...
August 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28795959/zika-virus-and-the-eye
#12
Bruno de Paula Freitas, Camila V Ventura, Mauricio Maia, Rubens Belfort
PURPOSE OF REVIEW: The aim of this study was to review the ocular findings related to the Zika virus (ZIKV) based on the main studies published to date, describe the patterns of the lesions and risk factors, and identify the public health implications and scientific importance of this emerging disease. RECENT FINDINGS: In most studies, the ZIKV seems related to congenital ocular lesions and most mothers reported mild symptoms during the first pregnancy trimester...
August 8, 2017: Current Opinion in Ophthalmology
https://www.readbyqxmd.com/read/28768527/bilateral-blindness-secondary-to-optic-nerve-ischemia-from-severe-amlodipine-overdose-a-case-report
#13
Raymond Kao, Yves Landry, Genevieve Chick, Andrew Leung
BACKGROUND: Calcium channel blockers are commonly prescribed medications; calcium channel blocker overdose is becoming increasingly prevalent. The typical presentation of a calcium channel blocker overdose is hypotension and decreased level of consciousness. We describe a case of a calcium channel blocker overdose that led to bilateral cortical blindness, a presentation that has not previously been reported. CASE PRESENTATION: A 49-year-old white woman with known bilateral early optic atrophy presented to our hospital with hypotension and obtundation following a known ingestion of 150 mg of amlodipine...
August 3, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28755567/microcephaly-and-zika-virus-neuroradiological-aspects-clinical-findings-and-a-proposed-framework-for-early-evaluation-of-child-development
#14
Nelci Adriana Cicuto Ferreira Rocha, Ana Carolina de Campos, Fellipe Cicuto Ferreira Rocha, Fernanda Pereira Dos Santos Silva
BACKGROUND AND AIMS: As the recent outbreak of microcephaly cases caused by Zika virus has been declared a global health emergency, providing assessment guidelines for multidisciplinary teams providing early developmental screening and stimulation to infants with microcephaly is much needed. Thus, the aim of this manuscript is to provide an overview on what is known about neuroradiological aspects and clinical findings in infants with microcephaly caused by Zika virus and to propose a framework for early evaluation of child development...
July 26, 2017: Infant Behavior & Development
https://www.readbyqxmd.com/read/28755068/-intravitreal-methotrexate-for-treatment-of-uveitic-cystoid-macular-edema
#15
J Maaß, E Matthé
We present the case of a patient who had several intravitreal methotrexate injections due to a uveitic macular edema and a known steroid response. An earlier off-label therapy with avastin had not been successful. After the intravitreal methotrexate injections a good resorption of the retinal fluid as well as a good intraocular pressure and a good visual acuity could be achieved. Visual acuity was limited by pre-existing glaucomatous optic nerve atrophy and a central scar in the cornea.
July 28, 2017: Der Ophthalmologe: Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
https://www.readbyqxmd.com/read/28742160/sub-classification-of-myopic-glaucomatous-eyes-according-to-optic-disc-and-peripapillary-features
#16
Seungbong Han, Kyung Rim Sung, Jimin Park, Joo Young Yoon, Joong Won Shin
PURPOSE: To investigate the sub-classification of myopic glaucomatous eyes by optic disc and peripapillary features. METHODS: Optic disc tilt and torsion were determined from retinal nerve fiber layer photographs. Based on the location of the Bruch's membrane (BM) opening within the β-zone of the peripapillary atrophy (PPA) area, the widths of β-zone PPA (PPA1W), PPA+BM (PPA2W), and PPA-BM (PPA3W) were measured with enhanced depth imaging spectral-domain optical coherence tomography...
2017: PloS One
https://www.readbyqxmd.com/read/28739278/p38mapk-plays-a-critical-role-in-induction-of-a-pro-inflammatory-phenotype-of-retinal-m%C3%A3-ller-cells-following-zika-virus-infection
#17
Shuang Zhu, Huanle Luo, Hua Liu, Yonju Ha, Elizabeth R Mays, Ryan E Lawrence, Evandro Winkelmann, Alan D Barrett, Sylvia B Smith, Min Wang, Tian Wang, Wenbo Zhang
Zika virus (ZIKV) infection has been associated with ocular abnormalities such as chorioretinal atrophy, optic nerve abnormalities, posterior uveitis and idiopathic maculopathy. Yet our knowledge about ZIKV infection in retinal cells and its potential contribution to retinal pathology is still very limited. Here we found that primary Müller cells, the principal glial cells in the retina, expressed a high level of ZIKV entry cofactor AXL gene and were highly permissive to ZIKV infection. In addition, ZIKV-infected Müller cells exhibited a pro-inflammatory phenotype and produced many inflammatory and growth factors...
September 2017: Antiviral Research
https://www.readbyqxmd.com/read/28716668/incomplete-penetrance-in-mitochondrial-optic-neuropathies
#18
Leonardo Caporali, Alessandra Maresca, Mariantonietta Capristo, Valentina Del Dotto, Francesca Tagliavini, Maria Lucia Valentino, Chiara La Morgia, Valerio Carelli
Incomplete penetrance characterizes the two most frequent inherited optic neuropathies, Leber's Hereditary Optic Neuropathy (LHON) and dominant optic atrophy (DOA), due to genetic errors in the mitochondrial DNA (mtDNA) and the nuclear DNA (nDNA), respectively. For LHON, compelling evidence has accumulated on the complex interplay of mtDNA haplogroups and environmental interacting factors, whereas the nDNA remains essentially non informative. However, a compensatory mechanism of activated mitochondrial biogenesis and increased mtDNA copy number, possibly driven by a permissive nDNA background, is documented in LHON; when successful it maintains unaffected the mutation carriers, but in some individuals it might be hampered by tobacco smoking or other environmental factors, resulting in disease onset...
July 14, 2017: Mitochondrion
https://www.readbyqxmd.com/read/28700390/bartonella-henselae-neuroretinitis-associated-with-central-retinal-vein-occlusion-choroidal-ischemia-and-ischemic-optic-neuropathy
#19
Quraish Ghadiali, Larissa K Ghadiali, Lawrence A Yannuzzi
PURPOSE: We describe a healthy 37-year-old man with Bartonella henselae (B. henselae) neuroretinitis with concurrent central retinal vein occlusion and ischemic optic neuropathy resulting in optic atrophy and choroidal ischemia. METHODS: Case report. RESULTS: A 37-year-old man presented with unilateral decreased vision and a fundus examination consistent with neuroretinitis. Further imaging review supported a concurrent diagnosis of central retinal vein occlusion...
July 11, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28680463/diagnosis-and-treatment-of-herpes-simplex-1-virus-infection-in-pregnancy
#20
REVIEW
Rachel Lee, Manju Nair
A nulliparous woman presented at 21 weeks' gestation with a 72-h history of a rash on her left arm. Initially isolated to the forearm, it had quickly spread, becoming multiple itchy fluid-filled blisters. Blood tests showed mild neutrophilia and raised CRP. Skin swabs demonstrated the presence of herpes simplex virus type 1 (HSV1) DNA. There was no history of previous HSV1 exposure. There is scant literature on uncomplicated cutaneous HSV1 since the majority is oral/genital. The incidence of transmission varies and is dependent on site of infection and immunological status...
June 2017: Obstetric Medicine
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