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optic nerve hypoplasia

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https://www.readbyqxmd.com/read/29753093/epidemiology-of-septo-optic-dysplasia-with-focus-on-prevalence-and-maternal-age-a-eurocat-study
#1
Ester Garne, Anke Rissmann, Marie-Claude Addor, Ingeborg Barisic, Jorieke Bergman, Paula Braz, Clara Cavero-Carbonell, Elizabeth S Draper, Miriam Gatt, Martin Haeusler, Kari Klungsoyr, Jennifer J Kurinczuk, Nathalie Lelong, Karen Luyt, Catherine Lynch, Mary T O'Mahony, Olatz Mokoroa, Vera Nelen, Amanda J Neville, Anna Pierini, Hanitra Randrianaivo, Judith Rankin, Florence Rouget, Bruno Schaub, David Tucker, Christine Verellen-Dumoulin, Diana Wellesley, Awi Wiesel, Nataliia Zymak-Zakutnia, Monica Lanzoni, Joan K Morris
Septo-optic nerve dysplasia is a rare congenital anomaly with optic nerve hypoplasia, pituitary hormone deficiencies and midline developmental defects of the brain. The clinical findings are visual impairment, hypopituitarism and developmental delays. The aim of this study was to report prevalence, associated anomalies, maternal age and other epidemiological factors from a large European population based network of congenital anomaly registries (EUROCAT). Data from 29 full member registries for the years 2005-2014 were included, covering 6...
May 9, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29698814/ocular-abnormalities-in-congenital-zika-syndrome-are-the-ophthalmoscopic-findings-the-top-of-the-iceberg
#2
REVIEW
João Rafael de Oliveira Dias, Camila V Ventura, Bruno de Paula Freitas, Juliana Prazeres, Liana O Ventura, Vasco Bravo-Filho, Tomas Aleman, Albert Icksang Ko, Andréa Zin, Rubens Belfort, Mauricio Maia
Zika virus (ZIKV) is an arbovirus mainly transmitted to humans by mosquitoes from Aedes genus. Other ways of transmission include the perinatal and sexual routes, blood transfusion, and laboratory exposure. Although the first human cases were registered in 1952 in African countries, outbreaks were only reported since 2007, when entire Pacific islands were affected. In March 2015, the first cases of ZIKV acute infection were notified in Brazil and, to date, 48 countries and territories in the Americas have confirmed local mosquito-borne transmission of ZIKV...
April 23, 2018: Progress in Retinal and Eye Research
https://www.readbyqxmd.com/read/29663010/septo-optic-dysplasia-assessment-of-associated-findings-with-special-attention-to-the-olfactory-sulci-and-tracts
#3
John C Benson, David Nascene, Charles Truwit, Alexander M McKinney
PURPOSE: Septo-optic dysplasia is a congenital disorder consisting of optic nerve hypoplasia and absent septum pellucidum. While associated anomalies have been described, olfactory sulcus and bulb-tract hypoplasia have been scantily reported and was the focus of this study. METHODS: The picture archival and communications system and radiology information system (PACS-RIS) was searched over 15 years for patients with suspected septo-optic dysplasia (n = 41) and cerebral magnetic resonance imaging (MRI)...
April 16, 2018: Clinical Neuroradiology
https://www.readbyqxmd.com/read/29593643/spontaneous-nystagmus-in-the-dark-in-an-infantile-nystagmus-patient-may-represent-negative-optokinetic-afternystagmus
#4
Ting-Feng Lin, Christina Gerth-Kahlert, James V M Hanson, Dominik Straumann, Melody Ying-Yu Huang
Abnormal projection of the optic nerves to the wrong cerebral hemisphere transforms the optokinetic system from its usual negative feedback loop to a positive feedback loop with characteristic ocular motor instabilities including directional reversal of the optokinetic nystagmus (OKN) and spontaneous nystagmus, which are common features of infantile nystagmus syndrome (INS). Visual input plays a critical role in INS linked to an underlying optic nerve misprojection such as that often seen in albinism. However, spontaneous nystagmus often continues in darkness, making the visual, sensory-driven etiology questionable...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29567792/prevalence-of-the-optic-disc-anomalies-in-the-adult-south-indian-population
#5
Shikha Talwar Bassi, Ronnie George, Swarnali Sen, Rashima Asokan, Vijaya Lingam
PURPOSE: To determine the prevalence of congenitally abnormal disc (all anomalies) in an adult population in southern India. METHODS: Subjects aged ≥40 years (n=6013) underwent a complete ophthalmic examination. Optic disc anomalies were diagnosed according to the definitions given in the article. RESULTS: Optic disc anomalies were found in 81 eyes of 66 (1.1%, 95% CIs 0.00834 to 0.01361) patients. The prevalence of each anomaly in the descending order was peripapillary myelinated nerve fibre (0...
March 22, 2018: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/29493862/multiple-ocular-developmental-defects-in-four-closely-related-alpacas
#6
Kelly E Knickelbein, David J Maggs, Christopher M Reilly, Kathryn L Good, Juliet R Gionfriddo
OBJECTIVE: To describe the clinical, gross pathologic, and histopathologic findings for a visually impaired 5.8-year-old female alpaca with multiple ocular abnormalities, as well as the clinical findings for three closely related alpacas. ANIMALS STUDIED: Four alpacas. PROCEDURES: Ophthalmic examination was performed on a 16-month-old female alpaca following observation of visual impairment while hospitalized for an unrelated illness. Following acute systemic decline and death 4...
March 1, 2018: Veterinary Ophthalmology
https://www.readbyqxmd.com/read/29479262/increasing-incidence-of-optic-nerve-hypoplasia-septo-optic-dysplasia-spectrum-geographic-clustering-in-northern-canada
#7
Tanya Khaper, Martin Bunge, Ian Clark, Mubeen Fatima Rafay, Aziz Mhanni, Nicole Kirouac, Atul Sharma, Celia Rodd, Brandy Wicklow
Introduction: Owing to the shared embryonic origin, defects in development of optic nerves are often seen in conjunction with defects affecting the surrounding brain and pituitary gland. Optic nerve hypoplasia (ONH) and septo-optic dysplasia (SOD) represent a clinical spectrum associated with visual, pituitary and severe central nervous system structural abnormalities (SODplus). Based on changing clinical patterns, our primary objective was to examine trends in annual incidence of ONH/SOD and geographical clustering in Manitoba...
November 2017: Paediatrics & Child Health
https://www.readbyqxmd.com/read/29345414/molecular-characterization-of-a-series-of-990-index-patients-with-albinism
#8
Eulalie Lasseaux, Claudio Plaisant, Vincent Michaud, Perrine Pennamen, Aurelien Trimouille, Laetitia Gaston, Solène Monfermé, Didier Lacombe, Caroline Rooryck, Fanny Morice-Picard, Benoît Arveiler
Albinism is a clinically and genetically heterogeneous disease characterized by variable degrees of hypopigmentation and by nystagmus, foveal hypoplasia, and chiasmatic misrouting of the optic nerves. The wide phenotypic heterogeneity impedes the establishment of phenotype-genotype correlations. To obtain a precise diagnosis, we screened the 19 known albinism genes in 990 index patients using targeted next-generation sequencing (NGS) and high-resolution comparative genomic hybridization. A molecular diagnosis was obtained in 72...
January 18, 2018: Pigment Cell & Melanoma Research
https://www.readbyqxmd.com/read/29333833/-infrequent-mutation-in-renal-coloboma-syndrome-case-report-and-review
#9
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
#10
REVIEW
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/29176324/pituitary-dysfunction-in-pediatric-patients-with-optic-nerve-hypoplasia-a-retrospective-cohort-study-1975-2014
#11
Naseem Alyahyawi, Keira Dheensaw, Nazrul Islam, Maryam Aroichane, Shazhan Amed
BACKGROUND/AIMS: The risk factors for pituitary hormone dysfunction (PHD) in children with optic nerve hypoplasia (ONH) are not well understood. This study identified the type, timing, and predictors of PHD in children with ONH. METHODS: ONH patient charts were reviewed retrospectively. The incidence rate of PHD was calculated assuming a Poisson distribution. Predictors of PHD were identified through a multivariable Cox proportional hazards model. RESULTS: Among 144 subjects with ONH, 49...
2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29172231/children-with-optic-nerve-hypoplasia-face-a-high-risk-of-neurodevelopmental-disorders
#12
Sara Dahl, Ronny Wickström, Ulla Ek, Kristina Teär Fahnehjelm
AIM: Optic nerve hypoplasia (ONH) is a congenital ocular malformation that has been associated with neurodevelopmental disorders, but the prevalence in unilateral disease and less severe visual impairment is unknown. We studied intellectual disability and autism spectrum disorders (ASDs) in patients with ONH. METHODS: This was a population-based cross-sectional cohort study of 65 patients (33 female) with ONH below 20 years of age, living in Stockholm in December 2009, with data analysed in January 2016...
March 2018: Acta Paediatrica
https://www.readbyqxmd.com/read/29171184/structural-malformations-of-the-brain-eye-and-pituitary-gland-in-phace-syndrome
#13
Jack E Steiner, Garrett N McCoy, Christopher P Hess, William B Dobyns, Denise W Metry, Beth A Drolet, Mohit Maheshwari, Dawn H Siegel
PHACE syndrome is the association of segmental facial hemangiomas with congenital arterial, brain, cardiac, and ocular anomalies. Structural brain malformations affect 41-52% of PHACE patients and can be associated with focal neurologic deficits, developmental delays, and/or intellectual disability. To better characterize the spectrum of structural brain and other intracranial anomalies in PHACE syndrome, MRI scans of the head/neck were retrospectively reviewed in 55 patients from the PHACE Syndrome International Clinical Registry and Genetic Repository...
January 2018: American Journal of Medical Genetics. Part A
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
#14
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/29159066/six-adult-patients-with-septo-optic-dysplasia-and-drug-resistant-epilepsy-clinical-findings-and-course
#15
Mashael AlKhateeb, Richard McLachlan, Jorge Burneo, David Diosy, Seyed Mirsattari
Septo-optic dysplasia (SOD) is a rare disorder associated with optic nerve hypoplasia, pituitary abnormalities and agenesis/dysgenesis of midline brain structures including the septum pellucidum and corpus callosum. Though sometimes associated with drug-resistant epilepsy, this association has not been well studied. We report six SOD patients with associated malformation of cortical development (MCD) and drug-resistant epilepsy who underwent video-EEG telemetry at our centre between 1998 and 2016 for drug-resistant epilepsy...
2017: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/29153314/unilateral-optic-nerve-hypoplasia-optical-coherence-tomography-and-magnetic-resonance-imaging-study
#16
R Clemente-Tomás, N Ruíz-Del Río, F García-Ibor, A M Duch-Samper
No abstract text is available yet for this article.
November 16, 2017: Archivos de la Sociedad Española de Oftalmología
https://www.readbyqxmd.com/read/29111596/compliance-between-clinical-and-genetic-diagnosis-of-choroidal-hypoplasia-in-103-norwegian-border-collie-puppies
#17
Siv Grosås, Frode Lingaas, Kristin Wear Prestrud, Ernst-Otto Ropstad
OBJECTIVE: To describe the frequency of the nonhomologous end-joining factor 1 (NHEJ1) mutation and the compliance between clinical and genetic diagnosis of choroidal hypoplasia (CH) in a group of Norwegian Border Collies. ANIMALS STUDIED: Border collie puppies in the age from 5 to 8 weeks. MATERIAL AND METHODS: Puppies included in the study had a complete ophthalmological examination. All findings were recorded, and an ECVO scheme form was issued for each puppy...
November 7, 2017: Veterinary Ophthalmology
https://www.readbyqxmd.com/read/29109240/deficiency-of-the-thyroid-hormone-transporter-monocarboxylate-transporter-8-in-neural-progenitors-impairs-cellular-processes-crucial-for-early-corticogenesis
#18
Pieter Vancamp, Marie-Anne Deprez, Michiel Remmerie, Veerle M Darras
Thyroid hormones (THs) are essential for establishing layered brain structures, a process called corticogenesis, by acting on transcriptional activity of numerous genes. In humans, deficiency of the monocarboxylate transporter 8 (MCT8), involved in cellular uptake of THs before their action, results in severe neurological abnormalities, known as the Allan-Herndon-Dudley syndrome. While the brain lesions predominantly originate prenatally, it remains unclear how and when exactly MCT8 dysfunction affects cellular processes crucial for corticogenesis...
November 29, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29106825/recurrent-de-novo-mutations-disturbing-the-gtp-gdp-binding-pocket-of-rab11b-cause-intellectual-disability-and-a-distinctive-brain-phenotype
#19
Ideke J C Lamers, Margot R F Reijnders, Hanka Venselaar, Alison Kraus, Sandra Jansen, Bert B A de Vries, Gunnar Houge, Gyri Aasland Gradek, Jieun Seo, Murim Choi, Jong-Hee Chae, Ineke van der Burgt, Rolph Pfundt, Stef J F Letteboer, Sylvia E C van Beersum, Simone Dusseljee, Han G Brunner, Dan Doherty, Tjitske Kleefstra, Ronald Roepman
The Rab GTPase family comprises ∼70 GTP-binding proteins, functioning in vesicle formation, transport and fusion. They are activated by a conformational change induced by GTP-binding, allowing interactions with downstream effectors. Here, we report five individuals with two recurrent de novo missense mutations in RAB11B; c.64G>A; p.Val22Met in three individuals and c.202G>A; p.Ala68Thr in two individuals. An overlapping neurodevelopmental phenotype, including severe intellectual disability with absent speech, epilepsy, and hypotonia was observed in all affected individuals...
November 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29067402/optic-nerve-hypoplasia-is-a-pervasive-subcortical-pathology-of-visual-system-in-neonates
#20
Chen Liang, Alicia Kerr, Yangfengzhong Qiu, Francesca Cristofoli, Hilde Van Esch, Michael A Fox, Konark Mukherjee
Purpose: Optic nerve hypoplasia (ONH) is the most common cause of childhood congenital blindness in developed nations, yet the fundamental pathobiology of ONH remains unknown. The objective of this study was to employ a 'face validated' murine model to determine the timing of onset and the pathologic characteristics of ONH. Methods: Based on the robust linkage between X-linked CASK haploinsufficiency and clinically diagnosed ONH, we hypothesized that heterozygous deletion of CASK (CASK(+/-)) in rodents will produce an optic nerve pathology closely recapitulating ONH...
October 1, 2017: Investigative Ophthalmology & Visual Science
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