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"Optic Nerve Hypoplasia"

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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
#1
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...
October 23, 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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
Charu Kaiwar, Michael T Zimmerman, 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 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-year-old male patient with hypotonia, intellectual disability, optic nerve hypoplasia, delayed bone age, short stature, and altered neurotransmitter levels on CSF testing...
September 28, 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
#8
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...
August 25, 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
#9
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
#10
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
https://www.readbyqxmd.com/read/28755567/microcephaly-and-zika-virus-neuroradiological-aspects-clinical-findings-and-a-proposed-framework-for-early-evaluation-of-child-development
#11
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/28699050/-optic-nerve-hypoplasia-and-septo-optic-dysplasia
#12
R Lohmüller, A-S Gangloff, F Wenzel, W A Lagrèze
Optic nerve hypoplasia (ONH) is one of the most common causes of congenital visual impairment. It was first described in 1915 and represents a developmental disorder of the central nervous system. It is often associated with intracranial midline defects and is then referred to as septo-optic dysplasia (SOD). The symptoms of ONH range from minimal visual dysfunction to significant visual impairment with sensory defect nystagmus and even blindness. The ONH is often associated with further systemic, endocrinological and neurological abnormalities requiring a close interdisciplinary treatment of the patients...
July 11, 2017: Der Ophthalmologe: Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
https://www.readbyqxmd.com/read/28635423/inner-retinal-dystrophy-in-a-patient-with-biallelic-sequence-variants-in-brat1
#13
Julius T Oatts, Jacque L Duncan, Creig S Hoyt, Anne M Slavotinek, Anthony T Moore
BACKGROUND: Mutations in the BRCA1-associated protein required for the ataxia telangiectasia mutated (ATM) activation-1 (BRAT1) gene cause lethal neonatal rigidity and multifocal seizure syndrome characterized by rigidity and intractable seizures and a milder phenotype with intellectual disability, seizures, nonprogressive cerebellar ataxia or dyspraxia, and cerebellar atrophy. To date, nystagmus, cortical visual impairment, impairment of central vision, optic nerve hypoplasia, and optic atrophy have been described in this condition...
March 2, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28611172/incidental-bilateral-optic-nerve-hypoplasia
#14
Joshua Paul Harvey
No abstract text is available yet for this article.
June 13, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28587881/accidental-duplication-mr-imaging-findings-in-children-with-spasmus-nutans
#15
Meredith Bowen, Jason Peragallo, Stephen F Kralik, Andrea Poretti, Thierry A G M Huisman, Bruno P Soares
The Publisher regrets that this article is an accidental duplication of an article that has already been published, http://dx.doi.org/10.1016/j.jaapos.2017.03.001. The duplicate article has therefore been withdrawn. The full Elsevier Policy on Article Withdrawal can be found at https://www.elsevier.com/about/our-business/policies/article-withdrawal.
June 3, 2017: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/28584686/extra-pituitary-cerebral-anomalies-in-pediatric-patients-of-ectopic-neurohypophysis-an-uncommon-association
#16
Deb K Boruah, Shantiranjan Sanyal, Arjun Prakash, Sashidhar Achar, Rajanikant R Yadav, T Pravakaran, Dhaval D Dhingani, Barun K Sarmah
CONTEXT: Ectopic neurohypophysis (EN) refers to an interrupted, nonvisualized, and thinned out pituitary stalk with ectopic location of the posterior pituitary gland. Concurrent extra-pituitary cerebral and extra-cranial anomalies have been rarely reported in patients of EN. AIM: The aim of this study was to evaluate the magnetic resonance imaging (MRI) findings of extra-pituitary cerebral anomalies in pediatric patients of EN. SETTINGS AND DESIGN: A hospital-based cross-sectional study was conducted in a tertiary care center...
2017: Journal of Clinical Imaging Science
https://www.readbyqxmd.com/read/28542028/bilateral-optic-disc-pits-with-posterior-pituitary-ectopia
#17
Jonathan C Horton, A James Barkovich
Posterior pituitary ectopia has been reported previously in association with optic nerve hypoplasia, as a variant of septo-optic dysplasia. We describe a 14-year-old boy with posterior pituitary ectopia and bilateral optic disc pits. He had hypopituitarism and a reduction in visual acuity to 20/40 in each eye, owing to loss of foveal ganglion cells. Optic pits and posterior pituitary ectopia may have occurred together in the same subject by chance, but the rarity of both conditions suggests a possible association...
December 2017: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
https://www.readbyqxmd.com/read/28501829/genetic-causes-of-optic-nerve-hypoplasia
#18
REVIEW
Chun-An Chen, Jiani Yin, Richard Alan Lewis, Christian P Schaaf
Optic nerve hypoplasia (ONH) is the most common congenital optic nerve anomaly and a leading cause of blindness in the USA. Although most cases of ONH occur as isolated cases within their respective families, the advancement in molecular diagnostic technology has made us realise that a substantial fraction of cases has identifiable genetic causes, typically de novo mutations. An increasing number of genes has been reported, mutations of which can cause ONH. Many of the genes involved serve as transcription factors, participating in an intricate multistep process critical to eye development and neurogenesis in the neural retina...
May 13, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28482731/clinical-and-radiologic-spectrum-of-septo-optic-dysplasia-review-of-17-cases
#19
Callie Alt, Michael I Shevell, Chantal Poulin, Bernard Rosenblatt, Christine Saint-Martin, Myriam Srour
We retrospectively reviewed the clinical and radiologic characteristics of 17 individuals with septo-optic dysplasia (SOD) and attempted to identify correlations between imaging findings, clinical features, and neurodevelopmental outcome. Surprisingly, only 1 (6%) individual was classified as classic SOD (with septum pellucidum/corpus callosum dysgenesis), 3 (18%) as SOD-like (with normal septum pellucidum/corpus callosum) and the majority, 13 (76%), as SOD-plus (with cortical brain malformation). Cortical abnormalities included schizencephaly, polymicrogyria, and gray matter heterotopias...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28465303/epidemiology-of-blindness-in-children
#20
REVIEW
Ameenat Lola Solebo, Lucinda Teoh, Jugnoo Rahi
An estimated 14 million of the world's children are blind. A blind child is more likely to live in socioeconomic deprivation, to be more frequently hospitalised during childhood and to die in childhood than a child not living with blindness. This update of a previous review on childhood visual impairment focuses on emerging therapies for children with severe visual disability (severe visual impairment and blindness or SVI/BL).For children in higher income countries, cerebral visual impairment and optic nerve anomalies remain the most common causes of SVI/BL, while retinopathy of prematurity (ROP) and cataract are now the most common avoidable causes...
September 2017: Archives of Disease in Childhood
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