Results 81 to 90 of about 5,168 (273)

CDK13‐Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management

open access: yesClinical Genetics, Volume 108, Issue 2, Page 146-155, August 2025.
This report described 27 novel subject with CDK13‐related disorders. Collecting the clinical and radiological data, we better define the phenotypic spectrum of this condition and we suggest a comprehensive clinical management. ABSTRACT In 2016, Sifrim and colleagues described the first group of patients carrying heterozygous pathogenic variants in ...
Gianluca Contrò   +57 more
wiley   +1 more source

Exotropia Is the Main Pattern of Childhood Strabismus Surgery in the South of China: A Six-Year Clinical Review

open access: yesJournal of Ophthalmology, 2016
Purpose. To evaluate the distribution pattern and changes of strabismus surgery in children based on the data collected from a local eye hospital in the south of China between 2006 and 2011. Methods.
Xinping Yu   +4 more
doaj   +1 more source

Evaluation of vision therapy efficacy in intermitent exotropia treatment by 3D video-oculography [PDF]

open access: yes, 2013
Objetivo: Evaluar la eficacia del tratamiento en 3 casos de exotropia intermitente (XT(i)) mediante ejercicios de terapia visual, completando la exploración clínica con Videooculografia-30 y evidenciar la potencial aplicabilidad de esta tecnología para ...
Laria Ochaíta, Carlos   +1 more
core   +1 more source

Convergence insufficiency and its current treatment. [PDF]

open access: yes, 2010
PURPOSE OF REVIEW: Considerable uncertainty and controversy has existed concerning the management of convergence insufficiency. Only recently there have been significant scientific studies published that compare the effectiveness of the commonly ...
Lavrich, Judith B
core   +2 more sources

Costello Syndrome and Ophthalmologic Issues: Unveiling the Unseen

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 7, July 2025.
ABSTRACT Costello syndrome (CS) is an ultra‐rare condition belonging to the RASopathies, a group of disorders characterized by aberrant RAS/MAPK pathway signaling, which is involved in ocular development and in some eye pathologies. However, only a few studies assessing the ophthalmic features of individuals with CS are available.
Sofia Peschiaroli   +13 more
wiley   +1 more source

Immune Checkpoint Inhibitor‐Related Dysautonomia in Merkel Cell Carcinoma: A Case Report

open access: yesCancer Reports, Volume 8, Issue 7, July 2025.
ABSTRACT Background Immune checkpoint inhibitors (ICIs) are monoclonal antibodies that block inhibitory pathways that cancer cells exploit to suppress T‐cell activation. Although immune‐related adverse events (irAEs) linked to ICI therapy are well documented and encompass dermatologic, endocrine, gastrointestinal, hepatic, and neurologic systems, ICI ...
Nidhi Kuchimanchi   +3 more
wiley   +1 more source

Early Results of Slanted Recession of the Lateral Rectus Muscle for Intermittent Exotropia with Convergence Insufficiency

open access: yesJournal of Ophthalmology, 2015
The aim of this study was to evaluate the efficacy of slanted recession of the lateral rectus muscle for intermittent exotropia with convergence insufficiency. This prospective study included 31 patients who underwent slanted lateral rectus recession for
Bo Young Chun, Kyung Min Kang
doaj   +1 more source

A Novel Mutation in CNTNAP1 Gene Causes Disorganization of Axonal Domains, Hypomyelination and Severe Neurological Deficits

open access: yesJournal of Neuroscience Research, Volume 103, Issue 4, April 2025.
Sell et al. report that a single amino acid change at glycine 350 to valine in mouse Cntnap1 disrupts protein function and compromises the paranodal domain organization and axo‐glial junction formation, leading to neurological deficits, which are all rescued by neuronal expression of the wild‐type Cntnap1 gene.
Lacey B. Sell   +4 more
wiley   +1 more source

Quality of life in intermittent exotropia for Korean children and their parents

open access: yesBMC Ophthalmology, 2023
Background Patients with strabismus are more likely to have mental health problems, including high rates of depressive symptoms and social phobia. Intermittent exotropia (IXT) typically occurs in early childhood and is more common in Asian populations ...
Jin Seon Oh, Jae Ho Jung, Hyun Jin Shin
doaj   +1 more source

Postural Stability Changes during Large Vertical Diplopia Induced by Prism Wear in Normal Subjects [PDF]

open access: yes, 2013
To test the effect of double vision on postural stability, we measured postural stability by electric stabilometry before prism-wearing and immediately, 15, 30, and 60min after continuous prism-wearing with 6 prism diopters in total (a 3-prism-diopter ...
Hasebe, Kayoko   +3 more
core   +1 more source

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