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optic nerve hypoplasia

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https://www.readbyqxmd.com/read/28542028/bilateral-optic-disc-pits-with-posterior-pituitary-ectopia
#1
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/28532291/using-key-informant-method-to-determine-the-prevalence-and-causes-of-childhood-blindness-in-south-eastern-nigeria
#2
Ada E Aghaji, Ifeoma R Ezegwui, Jude O Shiweobi, Cyril C Mamah, Mary N Okoloagu, Ernest N Onwasigwe
PURPOSE: To determine the prevalence and causes of childhood blindness in an underserved community in south-eastern Nigeria using the key informant method. METHODS: This was a descriptive cross-sectional study. Key informants (KI) appointed by their respective communities received 1-day training on identification of blind children in their communities. Two weeks later, the research team visited the agreed sites within the community and examined the identified children...
May 22, 2017: Ophthalmic Epidemiology
https://www.readbyqxmd.com/read/28501829/genetic-causes-of-optic-nerve-hypoplasia
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
https://www.readbyqxmd.com/read/28078992/smoking-and-eye-pathologies-a-systemic-review-part-ii-retina-diseases-uveitis-optic-neuropathies-thyroid-associated-orbitopathy
#15
Małgorzata Nita, Andrzej Grzybowski
BACKGROUND: Tobacco smoking has detrimental influence on human health. AIM: The analysis of influence of tobacco smoking on retina diseases, uveitis, optic neuropathies, and thyroidassociated orbitopathy in adults and children. METHODS: A comprehensive review of the literature performed through MEDLINE and PubMed searches, covering the years 2000-2016. RESULTS: In adults, tobacco smoking is a strong risk factor for age-related macular degeneration, polypoidal choroidal vasculopathy, uveitis and inflamed cystoid macular edema as well as Grave`s ophthalmopathy...
2017: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/28050731/septo-optic-dysplasia
#16
Vinod Kumar, Anjana Karunakaran, Jineesh Valakada
A seven-month-old child with congenital poor vision was referred for evaluation. Fundus examination revealed bilateral optic nerve hypoplasia with disc macula distance of approximately ten disc diameters. Neuroimaging revealed finding consistent with septo-optic dysplasia.
January 3, 2017: International Ophthalmology
https://www.readbyqxmd.com/read/27935818/prenatal-ethanol-exposure-in-mice-phenocopies-cdon-mutation-by-impeding-shh-function-in-the-etiology-of-optic-nerve-hypoplasia
#17
Benjamin M Kahn, Tanya S Corman, Korah Lovelace, Mingi Hong, Robert S Krauss, Douglas J Epstein
Septo-optic dysplasia (SOD) is a congenital disorder characterized by optic nerve, pituitary and midline brain malformations. The clinical presentation of SOD is highly variable with a poorly understood etiology. The majority of SOD cases are sporadic, but in rare instances inherited mutations have been identified in a small number of transcription factors, some of which regulate the expression of Sonic hedgehog (Shh) during mouse forebrain development. SOD is also associated with young maternal age, suggesting that environmental factors, including alcohol consumption at early stages of pregnancy, might increase the risk of developing this condition...
January 1, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/27891281/septooptic-dysplasia-with-an-associated-arachnoid-cyst
#18
Skyler V McLaurin-Jiang, Julie K Wood, David F Crudo
A 4-week-old male infant presented with hypothermia, hypoglycemia, and hyperbilirubinemia. His medical history was remarkable for hydrocephalus secondary to an arachnoid cyst, intermittent hypoglycemia, hypothermia, and poor feeding requiring nasogastric tube for nutrition. Physical exam revealed retrognathia, mild hypotonia, micropenis, and clinodactyly. Ophthalmologic exam demonstrated bilateral optic nerve hypoplasia (ONH). Laboratory data confirmed inadequate cortisol and growth hormone response to hypoglycemia, a low thyroxine level, and direct hyperbilirubinemia...
2016: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/27882486/vep-analysis-methods-in-children-with-optic-nerve-hypoplasia-relationship-to-visual-acuity-and-optic-disc-diameter
#19
John P Kelly, James O Phillips, Avery H Weiss
PURPOSE: Assessing vision in young children with optic nerve hypoplasia (ONH) is challenging due to multi-directional infantile nystagmus, the range of optic nerve loss, and cognitive delay. This study examined visual evoked potential (VEP) responses and averaging techniques in children with ONH. The assumption is that EEG epochs with inconsistent temporal phase would be associated with nystagmus, signal reduction due to axon loss, and visual inattention. METHODS: A retrospective chart review was performed on 44 children (average age 2...
December 2016: Documenta Ophthalmologica. Advances in Ophthalmology
https://www.readbyqxmd.com/read/27843434/peters-anomaly-in-twins-a-case-report-of-a-rare-incident-with-novel-comorbidities
#20
Hashem S Almarzouki, Alaa A Tayyib, Hassan A Khayat, Raed E Alsulami, Saeed M Alzahrani, Abdulaziz S Alkahtani, Loai S Alghifees
INTRODUCTION: Peters anomaly is a rare developmental malformation involving the anterior segment of the eye, which culminates in amblyopia or congenital blindness. Multiple ocular and/or systemic malformations have been observed with this anomaly, and novel comorbidities continue to be reported. CASE PRESENTATION: The probands were monozygotic twin boys (twin I and twin II) born to consanguineous parents at 36 weeks of gestation. Coarse facial features and deep-seated eyes were noted at birth...
September 2016: Case Reports in Ophthalmology
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