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"Optic Nerve Hypoplasia"

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https://www.readbyqxmd.com/read/28795295/predictive-value-of-n95-waveforms-of-pattern-electroretinograms-pergs-in-children-with-optic-nerve-hypoplasia-onh
#1
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...
August 9, 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
#2
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
#3
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
#4
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
#5
Joshua Paul Harvey
No abstract text is available yet for this article.
June 13, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28587881/mr-imaging-findings-in-children-with-spasmus-nutans
#6
Meredith Bowen, Jason Peragallo, Stephen F Kralik, Andrea Poretti, Thierry A G M Huisman, Bruno P Soares
BACKGROUND: Spasmus Nutans (SN) is a rare pediatric ophthalmologic syndrome of nystagmus, head bobbing and abnormal head positioning. Historically, SN has been associated with underlying optic pathway gliomas (OPG); however, evidence of this is association is based primarily on a small number of isolated case reports. Prior retrospective analyses have found the rate of OPG to be less than 2%, but only intermittently utilized neuroimaging with CT, which has limited sensitivity for detection of small lesions in the optic pathway...
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
#7
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
#8
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...
May 22, 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
#9
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
#10
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
#11
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...
May 2, 2017: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/28458461/endocrine-status-of-patients-with-septo-optic-dysplasia-fourteen-japanese-cases
#12
Mikiko Koizumi, Shinobu Ida, Yasuko Shoji, Yuri Etani, Yoshikazu Hatsukawa, Nobuhiko Okamoto
A clinical diagnosis of septo-optic dysplasia (SOD) is made when two or more of the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities or midline brain defects. To date, a clinical study of SOD, regarding its endocrinological features in particular, has not been undertaken in Japan. We retrospectively evaluated 14 SOD patients at our institution. Hormonal dysfunction was present in 78% of cases: ten cases presented combined hypopituitarism and one case presented precocious puberty. GHD and hypothyroidism were the most common endocrinopathies...
2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/28418539/ophthalmic-manifestations-of-congenital-zika-syndrome-in-colombia-and-venezuela
#13
MULTICENTER STUDY
Juan B Yepez, Felipe A Murati, Michele Pettito, Carlos F Peñaranda, Jazmin de Yepez, Gladys Maestre, J Fernando Arevalo
Importance: The ocular manifestations and sequelae of Zika virus infection are not well known. Recently, the World Health Organization changed the declaration of Zika as a public health emergency and designated the viral outbreak and related microcephaly clusters as a long-term program of work. This change indicates the urgent need to evaluate and document ophthalmic manifestations in patients for timely management of this disease. In addition, confirmation whether the public health problem in Brazil extends to other regions in South America is needed...
May 1, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/28410859/optic-nerve-hypoplasia-more-than-meets-the-eye
#14
Irena Hozjan
No abstract text is available yet for this article.
April 12, 2017: Journal of Pediatric Nursing
https://www.readbyqxmd.com/read/28394407/novel-case-of-paternal-paracentric-inversion-causing-partial-trisomy-13-and-review-of-the-literature
#15
Chad Douglas, Stephen A Smith, Luis Rohena
Partial trisomies have often been reported secondary to inversion mutations. These occurrences are most frequently associated with pericentric inversions. In this report, we describe the first documented case of partial trisomy 13 secondary to a parental paracentric inversion, in this case a paternal paracentric 13q inversion. Our Patient exhibits a variety of clinical findings including global developmental delay with intellectual disability, sensorineural hearing loss, bilateral congenital polar cataracts with associated foveal and optic nerve hypoplasia, right retinal detachment, atrial septal defect, absence of corpus callosum, celiac disease, microcephaly, as well as other dysmorphic features...
June 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28284856/magnetic-resonance-imaging-findings-in-children-with-spasmus-nutans
#16
Meredith Bowen, Jason H Peragallo, Stephen F Kralik, Andrea Poretti, Thierry A G M Huisman, Bruno P Soares
BACKGROUND: Spasmus nutans (SN) is a rare pediatric ophthalmologic syndrome characterized by nystagmus, head bobbing, and abnormal head positioning. Historically, SN has been associated with underlying optic pathway gliomas (OPG); however, evidence of this association is based primarily on a small number of isolated case reports. Prior retrospective analyses have found the rate of OPG to be <2%, but these studies only intermittently used neuroimaging with computed tomography, which has limited sensitivity for detection of small lesions in the optic pathway...
April 2017: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/28237965/genetic-dissection-of-anterior-segment-dysgenesis-caused-by-a-col4a1-mutation-in-mouse
#17
Mao Mao, Márton Kiss, Yvonne Ou, Douglas B Gould
Ocular anterior segment dysgenesis (ASD) describes a spectrum of clinically and genetically heterogeneous congenital disorders affecting anterior structures that often lead to impaired vision. More importantly, 50-75% of patients with ASD develop early onset and aggressive glaucoma. Although several genes have been implicated in the etiology of ASD, the underlying mechanisms remain elusive. Type IV collagen alpha 1 (COL4A1) is an extracellular matrix protein and a critical component of nearly all basement membranes...
April 1, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28217067/septo-optic-dysplasia-de-morsier-s-syndrome
#18
Pedro Reis, Joana Mourão
Septo-optic dysplasia (SOD)/de Morsier's syndrome is characterized by optic nerve hypoplasia, pituitary endocrine dysfunction, and midline brain abnormalities. Hypopituitarism, hypothyroidism, hypogonadism, and adrenal insufficiency can lead to severe hypoglycemia, adrenal crisis, seizures, and sudden death. Anesthetic management of SOD was associated with high perioperative mortality. A 9-year-old male child proposed for dental treatments/extractions. Medical history of SOD with hypopituitarism, hypothyroidism, and delayed psychomotor development was observed...
January 2017: Saudi Journal of Anaesthesia
https://www.readbyqxmd.com/read/28205530/retinal-structure-and-function-in-eyes-with-optic-nerve-hypoplasia
#19
Satoshi Katagiri, Sachiko Nishina, Tadashi Yokoi, Masashi Mikami, Yuri Nakayama, Michiko Tanaka, Noriyuki Azuma
We investigated retinal structure and function in eyes with optic nerve hypoplasia (ONH). Twenty-nine eyes of 18 patients with ONH and 21 eyes of 21 control patients were analyzed. Spectral-domain optical coherence tomography (SD-OCT), full-field electroretinography (FF-ERG), and focal macular ERG (FM-ERG) were performed. SD-OCT analysis of the macular region showed significant ganglion cells complex (GCC) thinning nasally and temporally (P < 0.05), but the thickness from the inner nuclear layer (INL) to the retinal pigment epithelium (RPE) became thinner only nasally (P < 0...
February 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28121717/normal-tension-glaucoma-masqueraders-detection-using-optical-coherence-tomography
#20
Debbie S Kuo, Sanjay Asrani
PURPOSE: Optical coherence tomography (OCT) has become an important tool in the diagnosis and management of glaucoma; however, there can be overlap in the OCT findings between glaucoma and other diseases. We describe the clinical examination finings and interpretation of OCT imaging that led to the diagnosis of glaucoma masqueraders in a clinical case series. MATERIALS AND METHODS: Four adult patients seen in the glaucoma clinic at the Duke Eye Center were included in a retrospective observational case series...
January 24, 2017: Journal of Glaucoma
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