Results 51 to 60 of about 85,145 (254)

Optic Nerve Hypoplasia Is a Pervasive Subcortical Pathology of Visual System in Neonates. [PDF]

Invest Ophthalmol Vis Sci, 2017
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.
Liang C, Kerr A, Qiu Y, Cristofoli F, Van Esch H, Fox MA, Mukherjee K.   +6 more
europepmc   +2 more sources

Bilateral optic nerve hypoplasia.

Clinical and experimental neurology, 2020
In the past 10 years, 15 children with bilateral optic nerve hypoplasia have been studied at the Royal Alexandra Hospital for Children. There were 5 boys and 10 girls. Nine were first-born and they presented at a mean age of 5 months (range: 4 days to 25
R. Ouvrier, D. Lewis, P. Procopis, F. Billson, M. Silink, M. de Silva   +5 more
semanticscholar   +1 more source

Septooptic Dysplasia with an Associated Arachnoid Cyst

Case Reports in Pediatrics, 2016
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
Skyler V. McLaurin-Jiang, Julie K. Wood, David F. Crudo   +2 more
doaj   +1 more source

Septo-optic dysplasia with amniotic band syndrome sequence: a case report

Journal of Medical Case Reports, 2019
Introduction De Morsier syndrome, or septo-optic dysplasia, is a rare, heterogeneous, complex condition with a highly variable phenotype. It is characterized by optic nerve hypoplasia, pituitary gland hypoplasia, and midline brain abnormalities ...
Insiyah A. Amiji, Ummulkheir H. Mohamed, Adelina G. Rutashobya, Mariam Mngoya, Nicole Schoenmann, Helga E. Naburi, Karim P. Manji   +6 more
doaj   +1 more source

Characteristic deviations of the optic disc and macula in optic nerve hypoplasia based on OCT

Acta ophthalmologica
The purpose of this study was to evaluate the optic disc and macula in a large cohort of patients with different severity of optic nerve hypoplasia (ONH) using high‐resolution spectral domain optical coherence tomography (SD‐OCT).
A. Skriapa-Manta, A. Venkataraman, M. Olsson, Maria Nilsson, Kristina Teär Fahnehjelm   +4 more
semanticscholar   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Is there an encephalographic trait to septo-optic dysplasia? (de Morsier syndrome) [PDF]

Romanian Journal of Neurology, 2014
Objectives. Septo-optic dysplasia (SOD), also known as de Morsier syndrome is a rare con-genital syndrome involving variable midline brain structures, characterized by visual impairment, pituitary deficiencies and specific brain abnormalities (especially
Oana Tarta-Arsene, Madalina Leanca, Mona Gandea, Dana Craiu   +3 more
doaj   +1 more source

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

An Unusual Case of Septo-Optic Dysplasia Presenting With Optic Nerve Disc Edema and Fovea Hypoplasia

, 2022
Septo-optic dysplasia (SOD) is a condition that affects the early development of the brain and eyes. The most common presenting symptoms include hypoplasia of the optic nerve, abnormal midline structures of the brain, and pituitary gland hypoplasia. Here
Richard Sather III; Sandra Montezuma; Dorothy Thompson
core  

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source