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Optic nerve atrophy

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https://www.readbyqxmd.com/read/29333833/-infrequent-mutation-in-renal-coloboma-syndrome-case-report-and-review
#1
Ignacio Ruiz Del Olmo Izuzquiza, Yolanda Romero Salas, Ana Rodríguez Valle, Inmaculada González Viejo, María L Justa Roldán
Renal-coloboma syndrome is an autosomal dominant disease characterized by renal hypodysplasia and coloboma. A case of a 12-year-old girl with chronic kidney disease, bilateral optic nerve colobomas and an exceptional PAX-2 gene mutation is presented. Diagnosed in prenatal scans with bilateral renal hypoplasia, she presented clinical and laboratory findings of chronic kidney disease at 5 days of life. Following tests showed grade II bilateral vesicoureteral reflux spontaneously solved, maintained non nephrotic proteinuria controlled with enalapril and bilateral colobomas with left macular atrophy...
February 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29262476/-short-stature-optic-nerve-atrophy-and-pelger-hu%C3%A3-t-anomaly-syndrome-with-antibody-immunodeficiency-and-aplastic-anemia-a-case-report-and-literature-review
#2
T Y He, N Zhang, Y Xia, Y Luo, C R Li, J Yang
Objective: To investigate the clinical features and genetic characteristics of cases with NBAS gene defects. Method: Characteristics of clinical materials, immunological data and gene mutation of the first case in China with NBAS gene mutation were retrospectively analyzed. The related literature was searched by using search terms'NBAS'. Result: A 2-year-four-month old girl, was admitted due to 'fever and pallor for one day'. There was an intrauterine growth retardation at her fetal stage. Since her birth, she had suffered from recurrent infections and development delay was accompanied by persistent liver dysfunction...
December 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29258533/incidental-branch-retinal-artery-occlusion-on-optical-coherence-tomography-angiography-presenting-as-segmental-optic-atrophy-in-a-child-a-case-report
#3
Ji Hyung Choi, Hee Kyung Yang, Ji Eun Lee
BACKGROUND: Retinal artery occlusion is extremely rare in the pediatric population and most patients have risk factors. We report a case of a healthy child with segmental optic atrophy, complicated by incidental branch retinal artery occlusion (BRAO). CASE PRESENTATION: A 10-year-old boy who had a history of his mother's gestational diabetes presented with an inferonasal visual field defect in the left eye. His best-corrected visual acuities were 20/20 in both eyes (OU)...
December 19, 2017: BMC Ophthalmology
https://www.readbyqxmd.com/read/29217027/optic-disc-hemorrhages-in-glaucoma-and-common-clinical-features
#4
Zeynep Kayaarasi Ozturker, Kristen Munro, Neeru Gupta
OBJECTIVE: To analyze optic nerve head stereophotographs for the presence of optic disc hemorrhages, and to describe bleeding patterns and patient characteristics. DESIGN: Retrospective, cross-sectional study. PARTICIPANTS: 1113 optic nerve stereophotograph pairs of 562 consecutive patients. METHODS: Stereophotographs were systematically reviewed for the presence of a disc hemorrhage with careful documentation of optic nerve head features...
December 2017: Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie
https://www.readbyqxmd.com/read/29211617/targeting-hdac3-activity-with-rgfp966-protects-against-retinal-ganglion-cell-nuclear-atrophy-and-apoptosis-after-optic-nerve-injury
#5
Heather M Schmitt, Cassandra L Schlamp, Robert W Nickells
PURPOSE: HDAC3 regulates nuclear atrophy as an early response to axonal injury in retinal ganglion cells (RGCs) following optic nerve crush (ONC). Since conditional knockout of Hdac3 prevents nuclear atrophy post ONC, HDAC3 selective inhibition with RGFP966 through localized and systemic dosing of RGFP966 is necessary for application to acute and chronic models of optic nerve injury. METHODS: C57BL/6 mice were injected intravitreally with 1-10 μM RGFP966 immediately following ONC, and retinas were analyzed at 5, 7, and 14 days for metrics of nuclear atrophy and cell loss...
December 6, 2017: Journal of Ocular Pharmacology and Therapeutics
https://www.readbyqxmd.com/read/29210928/retinal-ganglion-cell-topography-in-patients-with-visual-pathway-pathology
#6
Simon Zehnder, Hannes Wildberger, James V M Hanson, Sebastian Lukas, Stefan Pelz, Klara Landau, Werner Wichmann, Christina Gerth-Kahlert
BACKGROUND: To investigate and quantify the impact of intracranial lesions at different locations within the visual pathway on the ganglion cell layer-inner plexiform layer (GCL-IPL) complex and the retinal nerve fiber layer (RNFL). METHODS: Patients with intracranial lesions affecting the optic chiasm (Group I) or the optic tract and/or lateral geniculate nucleus (Group II) were included. All patients received kinetic visual field assessment and underwent spectral domain optical coherence tomography...
November 21, 2017: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
https://www.readbyqxmd.com/read/29204649/aav2-mediated-transduction-of-the-mouse-retina-after-optic-nerve-injury
#7
Robert W Nickells, Heather M Schmitt, Margaret E Maes, Cassandra L Schlamp
Purpose: Gene therapy of retinal ganglion cells (RGCs) has promise as a powerful therapeutic for the rescue and regeneration of these cells after optic nerve damage. However, early after damage, RGCs undergo atrophic changes, including gene silencing. It is not known if these changes will deleteriously affect transduction and transgene expression, or if the therapeutic protein can influence reactivation of the endogenous genome. Methods: Double-transgenic mice carrying a Rosa26-(LoxP)-tdTomato reporter, and a mutant allele for the proapoptotic Bax gene were reared...
December 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29201990/retinal-thickness-correlates-with-parietal-cortical-atrophy-in-early-onset-alzheimer-s-disease-and-controls
#8
Jurre den Haan, Sarah F Janssen, Jacoba A van de Kreeke, Philip Scheltens, Frank D Verbraak, Femke H Bouwman
Introduction: The retina may reflect Alzheimer's disease (AD) neuropathological changes and is easily visualized with optical coherence tomography (OCT). Retinal thickness decrease has been correlated to AD, however, without information on amyloid status. We correlated retinal (layer) thickness to AD biomarkers in amyloid-positive early-onset AD (EOAD) patients and amyloid-negative controls. Methods: We measured macular thickness and peripapillary retinal nerve fiber layer thickness with OCT in 15 EOAD patients and 15 controls and correlated retinal thickness to visual rating scores for atrophy on magnetic resonance imaging...
2018: Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring
https://www.readbyqxmd.com/read/29195504/blinded-by-zika-a-missed-hiv-diagnosis-that-resulted-in-optic-neuropathy-and-blindness-a-case-report
#9
Tiffany Hirschel, Heimo Steffen, Victor Pecoul, Alexandra Calmy
BACKGROUND: Typical symptoms of an acute human immunodeficiency virus (HIV) infections like fever and rash are not specific and can be caused by a multitude of other pathogens, such as Zika or rickettsiosis. Up to 30% of primary HIV infection do not present with the typical flu-like symptoms and thus represent a diagnostic challenge. In this report, we describe a rare case of optic neuropathy as the initial presentation of primary HIV infection, which resulted in irreversible blindness...
December 1, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/29184165/atp1a3-mutations-can-cause-progressive-auditory-neuropathy-a-new-gene-of-auditory-synaptopathy
#10
Kyu-Hee Han, Doo-Yi Oh, Seungmin Lee, Chung Lee, Jin Hee Han, Min Young Kim, Hye-Rim Park, Moo Kyun Park, Nayoung K D Kim, Jaekwang Lee, Eunyoung Yi, Jong-Min Kim, Jeong-Whun Kim, Jong-Hee Chae, Seung Ha Oh, Woong-Yang Park, Byung Yoon Choi
The etiologies and prevalence of sporadic, postlingual-onset, progressive auditory neuropathy spectrum disorder (ANSD) have rarely been documented. Thus, we aimed to evaluate the prevalence and molecular etiologies of these cases. Three out of 106 sporadic progressive hearing losses turned out to manifest ANSD. Through whole exome sequencing and subsequent bioinformatics analysis, two out of the three were found to share a de novo variant, p.E818K of ATP1A3, which had been reported to cause exclusively CAPOS (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) syndrome...
November 28, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29180244/dual-loss-of-p110%C3%AE-pi3-kinase-and-skap-knstrn-expression-leads-to-combined-immunodeficiency-and-multisystem-syndromic-features
#11
Nigel Sharfe, Ariana Karanxha, Harjit Dadi, Daniele Merico, David Chitayat, Jo-Anne Herbrick, Spencer Freeman, Sergio Grinstein, Chaim M Roifman
BACKGROUND: We previously reported a novel syndrome characterized by combined immunodeficiency associated with severe developmental defects-subsequently known as Roifman-Chitayat syndrome (RCS; OMIM 613328). Linkage analysis identified 2 disease-associated loci. OBJECTIVES: We sought to identify the genetic defect in these patients and characterize their immunologic cellular abnormalities. METHODS: Genetic, immunologic, protein, and cellular functional analyses were used to identify and characterize patient genetic deficiencies and aberrant patient cell behavior...
November 26, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29171726/factors-associated-with-deep-circulation-in-the-peripapillary-chorioretinal-atrophy-zone-in-normal-tension-glaucoma-with-myopic-disc
#12
Naoki Kiyota, Hiroshi Kunikata, Seri Takahashi, Yukihiro Shiga, Kazuko Omodaka, Toru Nakazawa
PURPOSE: To investigate factors associated with choroidal microcirculation in the peripapillary chorioretinal atrophy (PPA) zone in eyes with normal-tension glaucoma (NTG) and myopic disc. METHODS: In 100 eyes of 100 NTG patients with myopic disc and 20 eyes of 20 age-matched myopic controls, 4.5 × 4.5 mm scans were made of the optic nerve head with optical coherence tomography angiography (OCTA). Peripapillary chorioretinal atrophy (PPA) area and PPA superficial choroidal image intensity (PPA-CI) were calculated with image j software...
November 24, 2017: Acta Ophthalmologica
https://www.readbyqxmd.com/read/29168313/children-with-blindness-major-causes-developmental-outcomes-and-implications-for-habilitation-and-educational-support-a-two-decade-swedish-population-based-study
#13
Kim de Verdier, Ek Ulla, Stefan Löfgren, Elisabeth Fernell
PURPOSE: The aim was to describe the population of children with congenital or early infancy blindness in Sweden, with regard to causes of blindness and prevalence of neurodevelopmental impairments. METHODS: Medical, psychological and pedagogical records of Swedish children with congenital or early infancy blindness (total blindness or light perception at the most) born in 1988-2008 were analysed regarding year of birth, gender, cause of blindness, gestational age, associated neurological disorders/syndromes, associated neurodevelopmental impairments, cognitive level and type of school placement...
November 23, 2017: Acta Ophthalmologica
https://www.readbyqxmd.com/read/29145429/heritability-of-the-morphology-of-optic-nerve-head-and-surrounding-structures-the-healthy-twin-study
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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