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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/29663010/septo-optic-dysplasia-assessment-of-associated-findings-with-special-attention-to-the-olfactory-sulci-and-tracts
#2
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/29567792/prevalence-of-the-optic-disc-anomalies-in-the-adult-south-indian-population
#3
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
#4
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
#5
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/29176324/pituitary-dysfunction-in-pediatric-patients-with-optic-nerve-hypoplasia-a-retrospective-cohort-study-1975-2014
#6
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
#7
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/29168313/children-with-blindness-major-causes-developmental-outcomes-and-implications-for-habilitation-and-educational-support-a-two-decade-swedish-population-based-study
#8
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
#9
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
#10
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/29106825/recurrent-de-novo-mutations-disturbing-the-gtp-gdp-binding-pocket-of-rab11b-cause-intellectual-disability-and-a-distinctive-brain-phenotype
#11
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
#12
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
https://www.readbyqxmd.com/read/29044091/management-of-a-case-of-divergent-strabismus-fixus-secondary-to-a-congenital-fibrosis-of-extraocular-muscles-type-2
#13
Jyoti Himanshu Matalia, Pratibha Panmand, Pooja Ghalla
A 17-year-old boy presented with a large exotropia with both eyes fixed in an abduction and upgaze, pupillary involvement since childhood. He had mild optic nerve hypoplasia in the right eye and situs inversus of the retinal vessels in the left optic disc. His ocular motility showed restriction of eye movements in all gazes. He was diagnosed with congenital fibrosis of extraocular muscles, type 2 (CFEOM2) and operated upon in a staged procedure with a satisfactory eye alignment using hang-back sutures in one eye and periosteal fixation in the other...
October 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/29026269/clinical-characteristics-of-septo-optic-dysplasia-accompanied-by-congenital-central-hypothyroidism-in-japan
#14
Keisuke Nagasaki, Takuo Kubota, Hironori Kobayashi, Hirotake Sawada, Chikahiko Numakura, Shohei Harada, Kei Takasawa, Kanshi Minamitani, Tomohiro Ishii, Satoshi Okada, Hotaka Kamasaki, Shigetaka Sugihara, Masanori Adachi, Toshihiro Tajima
Septo-optic dysplasia (SOD) is a congenital anomaly in which agenesis of the septum pellucidum and optic nerve hypoplasia are accompanied by hypopituitarism. Typically, the symptoms develop in 3 organs, the brain, eyes, and pituitary, and approximately one third of the patients present with all of the three cardinal features. The diagnostic criteria for SOD were established in Japan in 2015. The purpose of this study is to review clinical features regarding SOD patients with hypopituitarism in Japan. In this study, 21 patients with SOD were identified by a questionnaire survey for congenital central hypothyroidism...
2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/28985824/optic-nerve-hypoplasia-in-a-patient-with-a-de-novo-kif1a-heterozygous-mutation
#15
Lina Raffa, Marie-Pierre Matton, Jacques Michaud, Elsa Rossignol, Jean-Claude Decarie, Luis H Ospina
No abstract text is available yet for this article.
October 2017: Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie
https://www.readbyqxmd.com/read/28982953/neuroimaging-and-endocrine-disorders-in-paediatric-optic-nerve-hypoplasia
#16
Xiaoxiao Qian, Samksha Fouzdar Jain, Linda A Morgan, Travis Kruse, Monina Cabrera, Donny W Suh
PURPOSE: Optic nerve hypoplasia (ONH) is one of the leading causes of blindness among children. The purpose of this retrospective study is to determine the risk factors and association between brain MRI findings, pituitary abnormalities and endocrine disorders with the presence of ONH. METHODS: A retrospective review of patients seen at paediatric ophthalmology clinics from January 2006 to December 2016 at Children's Hospital and Medical Center and the University of Nebraska Medical Center was performed...
October 5, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/28963436/novel-nr2f1-variants-likely-disrupt-dna-binding-molecular-modeling-in-two-cases-review-of-published-cases-genotype-phenotype-correlation-and-phenotypic-expansion-of-the-bosch-boonstra-schaaf-optic-atrophy-syndrome
#17
REVIEW
Charu Kaiwar, Michael T Zimmermann, Matthew J Ferber, Zhiyv Niu, Raul A Urrutia, Eric W Klee, Dusica Babovic-Vuksanovic
Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a recently described autosomal dominant disorder caused by mutations in the NR2F1 gene. There are presently 28 cases of BBSOAS described in the literature. Its common features include developmental delay, intellectual disability, hypotonia, optic nerve atrophy, attention deficit disorder, autism spectrum disorder, seizures, hearing defects, spasticity, and thinning of the corpus callosum. Here we report two unrelated probands with novel, de novo, missense variants in NR2F1 The first is a 14-yr-old male patient with hypotonia, intellectual disability, optic nerve hypoplasia, delayed bone age, short stature, and altered neurotransmitter levels on cerebrospinal fluid testing...
November 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28840640/de-novo-pathogenic-variant-in-tubb2a-presenting-with-arthrogryposis-multiplex-congenita-brain-abnormalities-and-severe-developmental-delay
#18
Resham Ejaz, Anath C Lionel, Susan Blaser, Susan Walker, Stephen W Scherer, Riyana Babul-Hirji, Christian R Marshall, Dimitri J Stavropoulos, David Chitayat
Disorders of brain formation can occur from pathogenic variants in various alpha and beta tubulin genes. Heterozygous pathogenic variants in the beta tubulin isotype A gene, TUBB2A, have been recently implicated in brain malformations, seizures, and developmental delay. Limited information is known regarding the phenotypic spectrum associated with pathogenic variants in this gene given the rarity of the condition. We report the sixth individual with a de novo heterozygous TUBB2A pathogenic variant, who presented with a severe neurological phenotype along with unique features of arthrogryposis multiplex congenita, optic nerve hypoplasia, dysmorphic facial features, and vocal cord paralysis, thereby expanding the gene-related phenotype...
October 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28817389/congenital-anomalies-of-the-optic-disc-insights-from-optical-coherence-tomography-imaging
#19
REVIEW
Karen W Jeng-Miller, Dean M Cestari, Eric D Gaier
PURPOSE OF REVIEW: Congenital anomalies of the optic nerve are rare but significant causes of visual dysfunction in children and adults. Accurate diagnosis is dependent on a thorough funduscopic examination, but can be enhanced by imaging information garnered from optical coherence tomography (OCT). We review common congenital optic nerve anomalies, including optic disc pit, optic nerve coloboma, morning glory disc anomaly, and hypoplasia of the optic nerve, review their systemic associations, and discuss insights from OCT imaging...
November 2017: Current Opinion in Ophthalmology
https://www.readbyqxmd.com/read/28795295/predictive-value-of-n95-waveforms-of-pattern-electroretinograms-pergs-in-children-with-optic-nerve-hypoplasia-onh
#20
Daphne McCulloch, Pamela Garcia-Filion, Cassandra Fink, Anthony C Fisher, Antonio Eleuteri, Mark S Borchert
PURPOSE: As part of a long-term, prospective study of prenatal and clinical risk factors for optic nerve hypoplasia (ONH) at Children's Hospital Los Angeles, pattern ERGs (PERGs) were evaluated for prognostic value using an automated objective and robust analytical method. METHODS: Participants were 33 children with ophthalmoscopically diagnosed ONH [disc diameter-to-disc macula ratio (DD/DM) less than 0.35 in one or both eyes on fundus photographs]. Using cycloplegia and chloral hydrate sedation in one session before 26 months of age, we recorded PERGs to checkerboard reversal using five check sizes...
October 2017: Documenta Ophthalmologica. Advances in Ophthalmology
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