Results 21 to 30 of about 27,362 (190)

Altered Effective Connectivity of Children and Young Adults With Unilateral Amblyopia: A Resting-State Functional Magnetic Resonance Imaging Study

Frontiers in Neuroscience, 2021
The altered functional connectivity (FC) in amblyopia has been investigated by many studies, but the specific causality of brain connectivity needs to be explored further to understand the brain activity of amblyopia.
Peishan Dai, Peishan Dai, Xiaoyan Zhou, Xiaoyan Zhou, Yilin Ou, Yilin Ou, Tong Xiong, Tong Xiong, Jinlong Zhang, Jinlong Zhang, Zailiang Chen, Zailiang Chen, Beiji Zou, Beiji Zou, Xin Wei, Xin Wei, Ying Wu, Ying Wu, Manyi Xiao, Manyi Xiao   +19 more
doaj   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Occlusion Outcomes in Unilateral Amblyopia Types: A Longitudinal and Interventional Study in Children from the Marrakech-Safi Region

British and Irish Orthoptic Journal
Objective: To investigate if the type of unilateral amblyopia can impact the improvement of visual acuity in amblyopic eyes during a longitudinal interventional study involving standard occlusion therapy in children.
Mustapha Jaouhari, Chaimae El Harrak, Farida Bentayeb, Youssef El Merabet   +3 more
doaj   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective We aimed to characterize the fetal features across gestation and describe genotype‐phenotype correlations for pregnancies with fetal RASopathies that were more severely affected as they presented with at least one abnormal fluid collection.
Natalie B. Gulrajani, John Boscardin, Billie R. Lianoglou, Katie Tick, Carmen M. A. Santoli, Kristen A. Miller, Angie C. Jelin, Lorraine Dugoff, Rose Giardine, Cori Feist, Rachel Pilliod, Stephanie Dukhovny, Kelly Gilmore, Neeta L. Vora, Aisling Murphy, Peter N. Robinson, Mary E. Norton, Teresa N. Sparks   +17 more
wiley   +1 more source

Analysis of the prevalence and influencing factors of amblyopia among children and adolescents in Yingjisha County, Kashi, Xinjiang

Yanke Xuebao
[Objective:] To conduct a comprehensive investigation into the prevalence of amblyopia and its influencing factors among children and adolescents aged 7-16 in Yingjisha County, Kashi, Xinjiang.
LIANG Xiaohong, ZHANG Enen, LIU Yuanyuan, REJI ·nursman, ZHANG Nuan, LIANG Jiaen, CHEN Meiling, HE Caiqing, CHEN Lingling, ZHANG Guohui, YOULIDAXI ·maimaitiaili, TAILAITI ·reyisha, WUSHOUER ·ayituxun, MUTAILIFU ·mulatijiang, LIU Xiaodi, WANG Xun, JIANG Hongwen, DING Lin, LIAO Ruilian   +18 more
doaj   +1 more source

Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations

The Journal of Dermatology, EarlyView.
ABSTRACT Genetic pigmentary disorders represent a diverse group of genetic conditions characterized by alterations in melanin production and transport and melanocyte development, resulting from single‐gene pathological variants. These disorders encompass both hypopigmentary and hyperpigmentary phenotypes, affecting not only skin pigmentation but also ...
Ken Okamura, Tamio Suzuki
wiley   +1 more source

A review of angle kappa and multifocal intraocular lenses and their effect on visual outcomes

Acta Ophthalmologica, EarlyView.
Abstract Although most patients are satisfied with their vision after multifocal intraocular lens (IOL) implantation, dissatisfaction has been reported for various reasons, including poor visual outcomes and visual disturbances. Many published reports hypothesise that preoperative angle kappa may be an associated factor in patient dissatisfaction ...
Thomas Kohnen, Viswanathan Ramasubramanian, Rajaraman Suryakumar   +2 more
wiley   +1 more source

Evaluati̇on of reti̇nal nerve fi̇ber layer thi̇ckness wi̇th opti̇cal coherence tomography i̇n vari̇ous amblyopi̇a types

Medicine Science, 2022
To investigate of the thickness of the retinal nerve fiber layer (RNFL) in pediatric patients who have unilateral amblyopia that was caused by anisometropia or strabismus via the use of optical coherence tomography (OCT).
Burak Oren, Seydi Okumus
doaj   +1 more source

Congenital aniridia: European COST action ANIRIDIA‐NET guidelines for diagnosis, management and care

Acta Ophthalmologica, EarlyView.
Abstract Congenital aniridia is a rare ocular disorder affecting the majority of eye structures and can be associated with systemic manifestations. The main visible phenotypic characteristic is the partial or complete absence of the iris; however, foveal hypoplasia is a more frequent and reliable clinical sign. Other ocular comorbidities are associated
Davide Romano, Vito Romano, Alejandra Daruich, Giulio Ferrari, Matthieu Robert, Francesco Semeraro, Neil Lagali, Dominique Bremond‐Gignac, the ANIRIDIA‐NET Clinical Guidelines Working Group, Miriam Barbany, Claus Cursiefen, Stefano Ferrari, Francisco Figueiredo, Christina Grupcheva, Jesper Hjortdal, Elke Kreps, Erlend Landsend, Laura Mauring, Hilde Pedersen, Nora Szentmáry, Bogumil Wowra, the Aniridia‐Europa and Geniris Working Group, Sophie Valleix, Juan Álvarez de Toledo, James Lauderdale, Tor Paaske Utheim, Paolo Rama   +26 more
wiley   +1 more source