Results 81 to 90 of about 3,171 (213)

Supranuclear eye movements and nystagmus in children: A review of the literature and guide to clinical examination, interpretation of findings and age-appropriate norms. [PDF]

open access: yes, 2018
Abnormal eye movements in children present a significant challenge to Ophthalmologists and other healthcare professionals. Similarly, examination of supra-nuclear eye movements in children and interpretation of any resulting clinical signs can seem very ...
A Bronstein   +37 more
core   +2 more sources

Multiple Mitochondrial Dysfunction Syndrome Caused by IBA57 Gene Mutation: A Case Report and Literature Review

open access: yesMolecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
We report a novel IBA57 variant in a pediatric case, with pathogenicity confirmed through familial segregation analysis, Sanger sequencing, 3D protein modeling, and evolutionary conservation studies. Mitochondrial complex activity assays demonstrated functional impairment. A comprehensive review of literature further elucidates the genotypic‐phenotypic
Jia Xu   +5 more
wiley   +1 more source

Transient Esotropia in the Child: Case Report and Review of the Literature

open access: yesCase Reports in Ophthalmology, 2017
The aim of this report is to investigate the possible causes of acute acquired onset of transient esotropia (AATE) in children and to help to differentiate ophthalmoplegic migraine (OM) from accommodative spasm (AS).
Davide Allegrini   +8 more
doaj   +1 more source

Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome [PDF]

open access: yes, 2013
Key Clinical Message A patient with syndromic Duane retraction syndrome harbors a chromosome 811.1q13.2 inversion and 8p11.1-q12.3 marker chromosome containing subregions with differing mosaicism and allele frequencies. This case highlights the potential
Andrews, Caroline   +9 more
core   +1 more source

Clinical and genetic landscape of epilepsies with absence seizures and single‐gene etiology

open access: yesEpilepsia, Volume 67, Issue 1, Page 272-290, January 2026.
Abstract Objective To characterize the clinical, electroencephalographic, and genetic features of epilepsies featuring absence seizures within monogenic etiology, highlighting the diagnostic, treatment and prognostic implications. Methods We conducted a retrospective, multicenter study including patients with monogenic epilepsies and ...
Simona Balestrini   +50 more
wiley   +1 more source

Acute acquired comitant esotropia: Current understanding of its etiological classification and treatment strategies

open access: yesTaiwan Journal of Ophthalmology
Acute acquired comitant esotropia (AACE) is characterized by acute onset of esotropia without limitation of eye movements in children and adults. AACE has been considered relatively rare, and most previous reports were small case series.
Noriko Nishikawa, Miho Sato
doaj   +1 more source

Evaluating a new surgical dosage calculation method for esotropia

open access: yesOman Journal of Ophthalmology, 2013
Purpose: To evaluate a simplified method for correction of ocular deviation in patients of infantile and acquired basic esotropia. Materials and Methods: Thirty-six consecutive patients of infantile and acquired basic esotropia were selected for this ...
Siddharth Agrawal   +3 more
doaj   +1 more source

Infantile nystagmus: an optometrist's perspective [PDF]

open access: yes, 2017
Infantile nystagmus (IN), previously known as congenital nystagmus, is an involuntary to-and-fro movement of the eyes that persists throughout life.
Binti Ahmad Zahidi, Asma   +3 more
core   +1 more source

Effect of Different Spectacle Correction Status on Binocular Vision Function in Myopia: A Prospective Study

open access: yesJournal of Ophthalmology, Volume 2026, Issue 1, 2026.
Purpose To explore the influence of myopia during different spectacle correction status on binocular vision function. Methods A total of 1446 myopic patients (2892 eyes) with different glasses‐wearing states, with a mean age of 22.38 ± 4.74 years, were randomly selected from the Corneal Refractive Department of Jinan Mingshui Eye Hospital between ...
Jing Zhang   +6 more
wiley   +1 more source

Fourth Cranial Nerve Palsy and Brown Syndrome: Two Interrelated Congenital Cranial Dysinnervation Disorders? [PDF]

open access: yes, 2018
Based on neuroimaging data showing absence of the trochlear nerve, congenital superior oblique palsy is now classified as a congenital cranial dysinnervation disorder.
Brodsky, Michael   +1 more
core  

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