Results 31 to 40 of about 1,057,814 (256)

Long term change of the optic disc and OCT parameters during myopic shift in children with large cup to disc ratio.

PLoS ONE, 2020
PurposeThis observational case series was to determine long term optic disc changes in eyes with large cup to disc ratio (CDR) and compare the changes induced by myopic shift during childhood with normal control eyes.MethodsChildren under 15 years of age
Ye Jin Ahn, Yoo Yeon Park, Shin Hae Park, Sun Young Shin   +3 more
doaj   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Pseudoexfoliative Glaucoma in a Patient with Toxic Optic Atrophy and Cupping

, 2011
A 57-year-old man, who had developed bilateral symmetric optic atrophy and cupping due to methanol intoxication nine years ago, noticed slowly progressive visual impairment in the left eye (OS). In ophthalmic examination, visual acuity was 20/60 in the
Dilaver Erşanlı, Ali Aydın, Ali Ayd›n, Akın Çakır, Ak›n Çak›r, Taner Kar, Ümit Aykan   +6 more
core   +1 more source

New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient

Molecular Genetics & Genomic Medicine, 2019
Background CMTX5 is characterized by peripheral neuropathy, early‐onset sensorineural hearing impairment, and optic neuropathy. Only seven variants have been reported and no genotype‐phenotype correlations have yet been established.
Justine Lerat, Corinne Magdelaine, Paco Derouault, Hélène Beauvais‐Dzugan, Eric Bieth, Blandine Acket, Marie‐Christine Arne‐Bes, Franck Sturtz, Anne‐Sophie Lia   +8 more
doaj   +1 more source

Comparative analysis of alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism ATP1A3 mutations reveals functional deficits, which do not correlate with disease severity

Neurobiology of Disease, 2020
Heterozygous mutations in the ATP1A3 gene, coding for an alpha subunit isoform (α3) of Na+/K+-ATPase, are the primary genetic cause for rapid-onset dystonia-parkinsonism (RDP) and alternating hemiplegia of childhood (AHC).
Elinor Lazarov, Merle Hillebrand, Simone Schröder, Katharina Ternka, Julia Hofhuis, Andreas Ohlenbusch, Alonso Barrantes-Freer, Luis A. Pardo, Marlene U. Fruergaard, Poul Nissen, Knut Brockmann, Jutta Gärtner, Hendrik Rosewich   +12 more
doaj   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Progressive auditory neuropathy in patients with Leber's hereditary optic neuropathy [PDF]

, 2004
Objective: To investigate auditory neural involvement in patients with Leber's hereditary optic neuropathy (LHON).Methods: Auditory assessment was undertaken in two patients with LHON.
Luxon, LM, Ceranic, B
core  

A case of autoimmune polyendocrine syndrome type 1 with ocular findings and unique AIRE gene defect

Journal of Clinical Ophthalmology and Research, 2016
Autoimmune polyendocrine syndrome type 1 (APS 1) is a rare autosomal recessive disorder that is characterized by autoimmunity against endocrine and ectodermal tissues. Clinical manifestations usually appear in childhood and consist of hypoparathyroidism,
Handan Akil, Ayse Derya Bulus, Nesibe Andiran, Pascale Saugier Veber, Soner Keskin   +4 more
doaj   +1 more source

MOGAD Is the Most Common Cause of Isolated Optic Neuritis in Children

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives The study aimed to characterize the clinical features, etiologies, and outcomes of isolated, first‐time pediatric ON in the post‐MOG‐IgG era. Methods This was a single‐center retrospective cohort study at Texas Children's Hospital of patients diagnosed with first‐time ON between 2018–2024, with follow‐up data collected through 2025.
Chaitanya Aduru, Akansha Chandrasekar, Kyla Blasingame, Jonathan Rosen, Jesse M. Levine, Karla Salazar, Madhuri Chilakapati, Rod Foroozan, Victoria Hardwick, Jonathan M. Yarimi, Nikita Shukla, Timothy E. Lotze, Kristen S. Fisher, Alexander J. Sandweiss   +13 more
wiley   +1 more source

Thalamo‐Lesional Connectivity Signatures of Bilateral Tonic–Clonic Seizures in Focal Cortical Dysplasia‐Related Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Focal cortical dysplasia (FCD) is the most common etiology of drug‐resistant epilepsy in children. Focal to bilateral tonic–clonic seizures (FBTCS) mark a high risk of drug‐resistant epilepsy and involve thalamocortical circuitry in their generation and propagation.
Hua Xie, Xiaotong Li, Venkata Sita Priyanka Illapani, Leigh N. Sepeta, Jason Schroeder, Chima O. Oluigbo, Madison M. Berl, William D. Gaillard, Nathan T. Cohen   +8 more
wiley   +1 more source