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Optic nerve atrophy

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https://www.readbyqxmd.com/read/29145429/heritability-of-the-morphology-of-optic-nerve-head-and-surrounding-structures-the-healthy-twin-study
#1
Jong Chul Han, Hyeonyoung Ko, Seung Hoon Kim, Taekkwan Rhee, Seung Wan Nam, Sungsoon Hwang, Ga-In Lee, Joohon Sung, Yun-Mi Song, Changwon Kee
BACKGROUND: Optic nerve head (ONH) and surrounding structures such as β-zone peripapillary atrophy (PPA) are important structures in glaucomatous pathogenesis. Thus, for understanding genetic components in glaucoma pathogenesis, it is necessary to evaluate the heritability of ONH and surrounding structures. The present study investigated the genetic influences on ONH and surrounding structures such as β-zone PPA and retinal vessels. METHODS: A total of 1,205 adult twins and their family members (362 monozygotic (MZ) twin subjects (181 pairs), 64 dizygotic (DZ) twin subjects (32 pairs), and 779 singletons from 261 families), were part of the Korean Healthy Twin Study...
2017: PloS One
https://www.readbyqxmd.com/read/29142087/no-evidence-of-disease-activity-is-associated-with-reduced-rate-of-axonal-retinal-atrophy-in-ms
#2
Marco Pisa, Simone Guerrieri, Giovanni Di Maggio, Stefania Medaglini, Lucia Moiola, Vittorio Martinelli, Giancarlo Comi, Letizia Leocani
OBJECTIVE: To explore, in a longitudinal study, the usefulness of optical coherence tomography (OCT) in monitoring people with multiple sclerosis (MS) by testing the association between retinal nerve fiber layer (RNFL) thinning and clinical and brain MRI criteria of no evidence of disease activity (NEDA). METHODS: OCT, visual evoked potentials (VEPs), and disability, using the Expanded Disability Status Scale (EDSS), were tested at baseline and after 2 years in 72 patients, 63 with routine yearly brain MRI...
November 15, 2017: Neurology
https://www.readbyqxmd.com/read/29135814/neuro-ophthalmology-at-a-tertiary-eye-care-centre-in-india
#3
Rebika Dhiman, Digvijay Singh, Shiva P Gantayala, Vaitheeswaran L Ganesan, Pradeep Sharma, Rohit Saxena
BACKGROUND: Neuro-ophthalmology as a specialty is underdeveloped in India. The aim of our study was to determine the spectrum and profile of patients presenting to a tertiary eye care center with neuro-ophthalmic disorders. METHODS: A retrospective hospital-based study was conducted, and records of all patients seen at the neuro-ophthalmology clinic of Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India, over a 1-year period were retrieved and evaluated...
November 9, 2017: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
https://www.readbyqxmd.com/read/29125019/the-loss-of-macular-ganglion-cells-begins-from-the-early-stages-of-disease-and-correlates-with-brain-atrophy-in-multiple-sclerosis-patients
#4
Anna M Pietroboni, Laura Dell'Arti, Michela Caprioli, Marta Scarioni, Tiziana Carandini, Andrea Arighi, Laura Ghezzi, Giorgio G Fumagalli, Milena A De Riz, Paola Basilico, Annalisa Colombi, Eleonora Benatti, Fabio Triulzi, Elio Scarpini, Francesco Viola, Daniela Galimberti
BACKGROUND: The importance of neurodegeneration in multiple sclerosis (MS) is increasingly well recognized. OBJECTIVES: To evaluate retinal pathology using optical coherence tomography (OCT) and to investigate possible associations between retinal layers' thickness and specific patterns of gray matter volume in patients with a new diagnosis of MS. METHODS: A total of 31 patients underwent OCT scans and brain magnetic resonance imaging. In total, 30 controls underwent the same OCT procedure...
November 1, 2017: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/29117065/reduced-ganglion-cell-volume-on-optical-coherence-tomography-in-patients-with-geographic-atrophy
#5
Hema L Ramkumar, Brian Nguyen, Dirk-Uwe Bartsch, Luke J Saunders, Ilkay Kilic Muftuoglu, Qisheng You, William R Freeman
PURPOSE: Geographic atrophy (GA) is the sequelae of macular degeneration. Automated inner retinal analysis using optical coherence tomography is flawed because segmentation software is calibrated for normal eyes. The purpose of this study is to determine whether ganglion cell layer (GCL) volume is reduced in GA using manual analysis. METHODS: Nineteen eyes with subfoveal GA and 22 controls were selected for morphometric analyses. Heidelberg scanning laser ophthalmoscope optical coherence tomography images of the optic nerve and macula were obtained, and the Viewing Module was used to manually calibrate retinal layer segmentation...
November 7, 2017: Retina
https://www.readbyqxmd.com/read/29117008/topographic-relationship-between-optic-disc-torsion-and-%C3%A3-zone-peripapillary-atrophy-in-the-myopic-eyes-of-young-patients-with-glaucomatous-appearing-visual-field-defects
#6
Jiyun Lee, Jong Eun Lee, Junki Kwon, Joong Won Shin, Michael S Kook
PURPOSE: To assess the topographic correlation between optic disc torsion (ODT) and beta-zone peripapillary atrophy (β-PPA) in young patients with myopia and glaucomatous-appearing visual field defects (VFDs). PATIENTS AND METHODS: We consecutively recruited 110 eyes of 110 young patients with myopia and glaucomatous-appearing VFDs. Retinal nerve fiber layer (RNFL) and macular ganglion cell inner plexiform layer (mGCIPL) thicknesses were measured to compare between the groups with different ODT directions...
November 7, 2017: Journal of Glaucoma
https://www.readbyqxmd.com/read/29111873/longitudinal-optical-coherence-tomography-study-of-optic-atrophy-in-secondary-progressive-multiple-sclerosis-results-from-a-clinical-trial-cohort
#7
Kimberly M Winges, Charles F Murchison, Dennis N Bourdette, Rebecca I Spain
BACKGROUND: Limited prospective information exists regarding spectral-domain optical coherence tomography (SD-OCT) in secondary progressive multiple sclerosis (SPMS). OBJECTIVE: Document cross-sectional and longitudinal retinal nerve fiber layer (RNFL) and macular ganglion cell plus inner plexiform layer (GCIPL) features of an SPMS clinical trial cohort. METHODS: Prospective, observational study using a 2-year randomized placebo-controlled SPMS trial cohort with yearly SD-OCT testing...
November 1, 2017: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/29101405/parapapillary-deep-layer-microvasculature-dropout-in-primary-open-angle-glaucoma-eyes-with-a-parapapillary-%C3%AE-zone
#8
Eun Ji Lee, Tae-Woo Kim, Ji-Ah Kim, Jeong-Ah Kim
Purpose: To explore the clinical characteristics of parapapillary deep-layer microvasculature dropout (MvD) associated with parapapillary γ-zone in primary open-angle glaucoma (POAG). Methods: A total of 150 eyes with POAG and 75 age- and axial length-matched control eyes, both having parapapillary γ-zone as determined by spectral-domain (SD) optical coherence tomography (OCT), were included. Parapapillary MvD was defined as a focal sectoral capillary dropout without any visible microvascular network identified in deep-layer en-face images obtained using swept-source OCT angiography (OCTA)...
November 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29091347/thickness-mapping-of-individual-retinal-layers-and-sectors-by-spectralis-sd-oct-in-autosomal-dominant-optic-atrophy
#9
Nihada Corajevic, Michael Larsen, Cecilia Rönnbäck
PURPOSE: To assess layer- and location-specific retinal thickness deficits in autosomal dominant optic atrophy (ADOA) using Spectralis SD-OCT. METHODS: This cross-sectional study included 41 ADOA patients with OPA1 exon 28 (2826delT) mutation [age, 8.6-83.5 years; best-corrected visual acuity (BCVA), 8-89 Early Treatment Diabetic Retinopathy Study (ETDRS) letters] and 55 mutation-free first-degree relatives as healthy controls (age, 8.9-68.7; BCVA, 80-99). Participants underwent routine examination and optical coherence tomography (OCT) with segmentation of the whole retina, inner retinal layers (IRL) and outer retinal layers (ORL)...
November 1, 2017: Acta Ophthalmologica
https://www.readbyqxmd.com/read/29073242/clinical-features-of-superficial-and-deep-peripapillary-microvascular-density-in-healthy-myopic-eyes
#10
Mi Sun Sung, Tae Hee Lee, Hwan Heo, Sang Woo Park
PURPOSE: To evaluate the clinical features of peripapillary microvasculature in myopic eyes and investigate the association between the superficial and deep peripapillary microvascular density and the myopic optic disc characteristics. MATERIALS AND METHODS: This cross-sectional study included one hundred and fifty healthy myopic eyes with β-peripapillary atrophy (β-PPA). Ovality index, degree of optic disc rotation, and the area of β-PPA were measured. Superficial and deep peripapillary microvascular density was measured using optical coherence tomography angiography...
2017: PloS One
https://www.readbyqxmd.com/read/29054473/mitochondrial-disorders-of-the-retinal-ganglion-cells-and-the-optic-nerve
#11
REVIEW
Josef Finsterer, Michelangelo Mancuso, Davide Pareyson, Jean-Marc Burgunder, Thomas Klopstock
OBJECTIVES: To summarise and discuss recent findings and future perspectives concerning mitochondrial disorders (MIDs) affecting the retinal ganglion cells and the optic nerve (mitochondrial optic neuropathy. MON). METHOD: Literature review. RESULTS: MON in MIDs is more frequent than usually anticipated. MON may occur in specific as well as non-specific MIDs. In specific and non-specific MIDs, MON may be a prominent or non-prominent phenotypic feature and due to mutations in genes located either in the mitochondrial DNA (mtDNA) or the nuclear DNA (nDNA)...
October 18, 2017: Mitochondrion
https://www.readbyqxmd.com/read/29053833/clinical-pathological-and-functional-characterization-of-riboflavin-responsive-neuropathy
#12
Andreea Manole, Zane Jaunmuktane, Iain Hargreaves, Marthe H R Ludtmann, Vincenzo Salpietro, Oscar D Bello, Simon Pope, Amelie Pandraud, Alejandro Horga, Renata S Scalco, Abi Li, Balasubramaniem Ashokkumar, Charles M Lourenço, Simon Heales, Rita Horvath, Patrick F Chinnery, Camilo Toro, Andrew B Singleton, Thomas S Jacques, Andrey Y Abramov, Francesco Muntoni, Michael G Hanna, Mary M Reilly, Tamas Revesz, Dimitri M Kullmann, James E C Jepson, Henry Houlden
Brown-Vialetto-Van Laere syndrome represents a phenotypic spectrum of motor, sensory, and cranial nerve neuropathy, often with ataxia, optic atrophy and respiratory problems leading to ventilator-dependence. Loss-of-function mutations in two riboflavin transporter genes, SLC52A2 and SLC52A3, have recently been linked to Brown-Vialetto-Van Laere syndrome. However, the genetic frequency, neuropathology and downstream consequences of riboflavin transporter mutations are unclear. By screening a large cohort of 132 patients with early-onset severe sensory, motor and cranial nerve neuropathy we confirmed the strong genetic link between riboflavin transporter mutations and Brown-Vialetto-Van Laere syndrome, identifying 22 pathogenic mutations in SLC52A2 and SLC52A3, 14 of which were novel...
November 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29050924/-progression-of-nerve-fiber-layer-defects-in-retrobulbar-optic-neuritis-by-the-macular-ganglion-cell-complex
#13
D Hong, C Bosc, F Chiambaretta
INTRODUCTION: Recent studies with SD OCT had shown early axonal damage to the macular ganglion cell complex (which consists of the three innermost layers of the retina: Inner Plexiform Layer [IPL], Ganglion Cell Layer [GCL], Retinal Nerve Fibre layer [RNFL]) in optic nerve pathology. Retrobulbar optic neuritis (RBON), occurring frequently in demyelinating diseases, leads to atrophy of the optic nerve fibers at the level of the ganglion cell axons, previously described in the literature...
November 2017: Journal Français D'ophtalmologie
https://www.readbyqxmd.com/read/29049726/comparison-of-sectoral-structure-function-relationships-in-glaucoma-vessel-density-versus-thickness-in-the-peripapillary-retinal-nerve-fiber-layer
#14
COMPARATIVE STUDY
Kimikazu Sakaguchi, Tomomi Higashide, Sachiko Udagawa, Shinji Ohkubo, Kazuhisa Sugiyama
Purpose: To compare the sectoral structure-function relationships in glaucoma between two structural parameters, vessel density (VD) and thickness, in the peripapillary retinal nerve fiber layer (RNFL). Methods: Optical coherence tomography (OCT) angiography (AngioVue/RTVue-XR) for VD and OCT (RS-3000) for peripapillary RNFL thickness were performed in 129 eyes from 129 subjects (94 glaucoma, 17 glaucoma suspects, and 18 normal eyes). Humphrey visual field (VF) tests were performed using a SITA standard 24-2 program...
October 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29025172/-anti-myelin-oligodendrocyte-glycoprotein-antibodies-in-paediatric-patients-with-optic-neuritis
#15
Helmut Tegetmeyer, Andreas Merkenschlager
Background Myelin oligodendrocyte glycoprotein (MOG) is located on the surface of oligodendrocytes and myelin in the central nervous system. MOG-IgG is associated with acute disseminated encephalomyelitis (ADEM), relapsing and bilateral optic neuritis (NNO), and transverse myelitis (TM) in both paediatric and adult patients. The combination of NNO and TM or other inflammatory brain lesions is a typical feature of neuromyelitis optica spectrum disorders (NMO-SD) which are associated with specific pathogenic autoantibodies against the water channel aquaporin-4 (AQP4-IgG)...
October 2017: Klinische Monatsblätter Für Augenheilkunde
https://www.readbyqxmd.com/read/28977448/optic-neuropathies-the-tip-of-the-neurodegeneration-iceberg
#16
Valerio Carelli, Chiara La Morgia, Fred N Ross-Cisneros, Alfredo A Sadun
The optic nerve and the cells that give origin to its 1.2 million axons, the retinal ganglion cells (RGCs), are particularly vulnerable to neurodegeneration related to mitochondrial dysfunction. Optic neuropathies may range from non-syndromic genetic entities, to rare syndromic multisystem diseases with optic atrophy such as mitochondrial encephalomyopathies, to age-related neurodegenerative diseases such as Alzheimer's and Parkinson's disease where optic nerve involvement has, until recently, been a relatively overlooked feature...
October 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28975230/ocular-histopathologic-features-of-congenital-zika-syndrome
#17
Maria P Fernandez, Edgar Parra Saad, Martha Ospina Martinez, Sheryl Corchuelo, Marcela Mercado Reyes, Maria Jose Herrera, Miguel Parra Saavedra, Angelica Rico, Angela M Fernandez, Richard K Lee, Camila V Ventura, Audina M Berrocal, Sander R Dubovy
Importance: Congenital Zika syndrome (CZS) is known to be associated with severe malformations in newborns. Although microcephaly is the hallmark of this disease, the ocular findings are important given the severe visual impairment that has been observed in these patients. Regardless of the increased number of CZS cases reported, to date, no studies have described the ocular histopathologic findings of this entity. Objectives: To evaluate the presence of Zika virus (ZIKV) antigens and describe the associated ocular histopathologic features of 4 cases of CZS...
November 1, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/28974335/retinal-neurodegeneration-and-brain-mri-markers-the-rotterdam-study
#18
Unal Mutlu, Pieter W M Bonnemaijer, M Arfan Ikram, Johanna M Colijn, Lotte G M Cremers, Gabriëlle H S Buitendijk, Johannes R Vingerling, Wiro J Niessen, Meike W Vernooij, Caroline C W Klaver, M Kamran Ikram
We investigated the association of specific retinal sublayer thicknesses on optical coherence tomography (OCT) with brain magnetic resonance imaging (MRI) markers. We included 2124 persons (mean age 67.0 years; 56% women) from the Rotterdam Study who had gradable retinal OCT images and brain MRI scans. Thickness of retinal nerve fiber layer (RNFL), ganglion cell layer (GCL), and inner plexiform layer were measured on OCT images. Volumetric, microstructural, and focal markers of brain tissue were assessed on MRI...
December 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28970574/autosomal-dominant-transmission-of-complicated-hereditary-spastic-paraplegia-due-to-a-dominant-negative-mutation-of-kif1a-spg30-gene
#19
Chong Kun Cheon, So-Hee Lim, Yoo-Mi Kim, Doyoun Kim, Na-Yoon Lee, Tae-Sung Yoon, Nam-Soon Kim, Eunjoon Kim, Jae-Ran Lee
KIF1A is a brain-specific anterograde motor protein that transports cargoes towards the plus-ends of microtubules. Many variants of the KIF1A gene have been associated with neurodegenerative diseases and developmental delay. Homozygous mutations of KIF1A have been identified in a recessive subtype of hereditary spastic paraplegia (HSP), SPG30. In addition, KIF1A mutations have been found in pure HSP with autosomal dominant inheritance. Here we report the first case of familial complicated HSP with a KIF1A mutation transmitted in autosomal dominant inheritance...
October 2, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28969390/mutations-in-dnm1l-as-in-opa1-result-indominant-optic-atrophy-despite-opposite-effectson-mitochondrial-fusion-and-fission
#20
Sylvie Gerber, Majida Charif, Arnaud Chevrollier, Tanguy Chaumette, Claire Angebault, Mariame Selma Kane, Aurélien Paris, Jennifer Alban, Mélanie Quiles, Cécile Delettre, Dominique Bonneau, Vincent Procaccio, Patrizia Amati-Bonneau, Pascal Reynier, Stéphanie Leruez, Raphael Calmon, Nathalie Boddaert, Benoit Funalot, Marlène Rio, Didier Bouccara, Isabelle Meunier, Hiromi Sesaki, Josseline Kaplan, Christian P Hamel, Jean-Michel Rozet, Guy Lenaers
Dominant optic atrophy is a blinding disease due to the degeneration of the retinal ganglion cells, the axons of which form the optic nerves. In most cases, the disease is caused by mutations in OPA1, a gene encoding a mitochondrial large GTPase involved in cristae structure and mitochondrial network fusion. Using exome sequencing, we identified dominant mutations in DNM1L on chromosome 12p11.21 in three large families with isolated optic atrophy, including the two families that defined the OPA5 locus on chromosome 19q12...
October 1, 2017: Brain: a Journal of Neurology
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