Results 81 to 90 of about 1,057,814 (256)

Aetiological Profile of Optic Atrophy: A hospital based prospective study [PDF]

, 2020
Objectives: This study was to evaluateclinical presentations and aetiological profiles of patients with optic atrophy.Methods:The patients had undergone complete ophthalmological examination, i.e.
Agrawal, Shilpi, Singh, Rajiv Kumar, Kumar, Sunil, Kumar, Ashish, Kumar, Abhishek, Narnoli, Prasansha   +5 more
core   +1 more source

Patient and Family Reported Clinical Picture of IRF2BPL‐Related Disorders

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT IRF2BPL‐related disorder is a neurodevelopmental disorder caused by heterozygous variants in the IRF2BPL (Interferon Regulatory Factor 2 Binding Protein‐Like) gene. The few reports available in the literature suggest that common symptoms include developmental delay, intellectual disability, and developmental regression.
Zoe Goldstone‐Joubert, Danielle M. Pascual, Laurie Anne Bailey, Loren D. M. Peña, Paul C. Marcogliese   +4 more
wiley   +1 more source

Dominant Optic Atrophy

, 2021
Dr.
Andrew G. Lee, MD; Rujman Khan
core  

WFS1 gene delivery rescues visual function in a mouse model of Wolfram syndrome

Acta Neuropathologica Communications
Wolfram syndrome is a rare childhood neurodegenerative disease characterized by diabetes followed by severe and rapid optic atrophy leading to blindness before the age of 20.
Jolanta Jagodzinska, Marie Péquignot, Emmanuelle Sarzi, Mélanie Quiles, Chantal Cazevieille, Agnès Müller, Sulev Koks, Cécile Delettre   +7 more
doaj   +1 more source

Genetic Variants of Na+,K+‐ATPase Associated With Neurological Disorders: A Systematic Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Neurological disorders encompass a wide range of severe symptoms and manifestations, many of which are associated with genetic variants that affect ionic homeostasis. Na+,K+‐ATPase, a transmembrane enzyme responsible for maintaining electrochemical gradients in cells, plays a crucial role in neuronal excitability and brain function.
Giovana Kummer da Rosa, Leandro Rodrigo Ribeiro, Jéssica Lorena Bariviera, Mauro Schneider Oliveira   +3 more
wiley   +1 more source

Optic Atrophy

, 2020
Dr.
Andrew G. Lee, MD; Carolyn Brooks
core  

Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy

, 1998
8 páginas, 3 figuras.Inherited optic neuropathies are a significant cause of childhood and adult blindness and dominant optic atrophy (DOA) is the most common form of autosomally inherited (non-glaucomatous) optic neuropathy.
Votruba, Marcela, Bhattacharya, S. S., Bhattacharya, Shom Shanker, Moore, Anthony T., Moore, A. T.   +4 more
core   +1 more source

Sotos syndrome: An interesting disorder with gigantism

Annals of Indian Academy of Neurology, 2008
We report the case of a 16-year-old boy diagnosed to have Sotos syndrome, with rare association of bilateral primary optic atrophy and epilepsy. He presented with accelerated linear growth, facial gestalt, distinctive facial features, seizures and ...
Nalini A, Biswas Arundhati
doaj  

Varicella-Zoster Virus and the Eye: Clinical Spectrum, Management, and Vaccination

Pathogens
Varicella-Zoster Virus (VZV) is one of the most important pathogens in ophthalmology. Reactivation may involve the adnexa (blepharoconjunctivitis, pseudomembranous conjunctivitis), cornea (dendritic keratitis, nummular and necrotizing stromal keratitis ...
Wendong Gu, Yaru Zou, Mingming Yang, Jing Zhang, Zizhen Ye, Jiaxin Deng, Yuan Zong, Kyoko Ohno-Matsui, Koju Kamoi   +8 more
doaj   +1 more source

Neuro-Ophthalmological Manifestations of Craniosynostosis: Current Perspectives

Eye and Brain, 2021
Michael Duan,1 Jesse Skoch,2 Brian S Pan,3 Veeral Shah4,5 1Baylor College of Medicine, School of Medicine, Houton, TX, USA; 2Cincinnati Children’s Hospital Medical Center, Division of Pediatric Neurosurgery, Cinicinnati, OH, USA; 3Cincinnati ...
Duan M, Skoch J, Pan BS, Shah V
doaj