Results 61 to 70 of about 52,772 (263)

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

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

Sensory Compensation in Children Following Vision Loss after Trauma and Disease [PDF]

, 2015
Sensory compensation or sensory substitution occurs when a sense organ, such as the eye, is lost due to trauma or disease. Individuals often experience phantom limb sensation or pain but research increasingly points towards some individuals developing a ...
Chinnery, H., Thompson, S.
core   +1 more source

Amblyopia

, 2010
Amblyopia is a neurodevelopmental abnormality that results in physiological alterations in the visual pathways and impaired vision in one eye, less commonly in both. It reflects a broad range of neural, perceptual, oculomotor, and clinical abnormalities that can occur when normal visual development is disrupted early in life.
openaire   +5 more sources

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

Visuomotor Behaviour in Amblyopia: Deficits and Compensatory Adaptations

Journal of Neural Transplantation and Plasticity, 2019
Amblyopia is a neurodevelopmental visual disorder arising from decorrelated binocular experience during the critical periods of development. The hallmark of amblyopia is reduced visual acuity and impairment in binocular vision.
E. Niechwiej-Szwedo, L. Colpa, A. Wong
semanticscholar   +1 more source

Vitreoretinal complications and surgical outcomes in patients with X‐linked retinoschisis

Acta Ophthalmologica, EarlyView.
Abstract Purpose X‐linked retinoschisis (XLRS) is an inherited vitreoretinal disorder characterized by macular retinoschisis. In a subgroup of patients, peripheral retinoschisis can occur, potentially leading to complications such as vitreous haemorrhage (VH) and retinal detachment (RD).
Jonathan Hensman, Leo C. Hahn, Mary J. van Schooneveld, Roselie M. H. Diederen, Filip van den Broeck, Jacoline B. Ten Brink, Alberta A. Thiadens, Maria M. van Genderen, L. Ingeborgh van den Born, Bart P. Leroy, Carel B. Hoyng, Camiel J. F. Boon   +11 more
wiley   +1 more source

Revised Swedish visual field standards for a driver's licence: Threshold perimetry as a predictor of eligibility according to the current Swedish and current Norwegian suprathreshold standards

Acta Ophthalmologica, EarlyView.
Abstract Purpose To explore whether threshold perimetry can predict fulfilment of the current Swedish and current Norwegian Esterman perimetry standards for Group 1 driver's licence, and differences in compliance between the former and current Swedish visual field standards.
Wid Saadi, Tomas Bro, Susanna Sagerfors
wiley   +1 more source

Prevalence and characteristics of amblyopia, strabismus, and refractive errors among patients aged 3–16 years in Shanghai, China: a hospital-based population study

BMC Ophthalmology
Background Functional visual impairments in children are primarily caused by amblyopia or strabismus. This study aimed to determine the prevalence and clinical profile of amblyopia and strabismus among individuals aged 3–16 years in Shanghai, China ...
Jiali Wu, Ning Wang
doaj   +1 more source

Prevalence of amblyopia among adult population and their various impacts on life: An experience over a period of eight months

Kerala Journal of Ophthalmology
Background: Amblyopia is due to insufficient development of the visual system in early childhood and affects 1% and 2% population of most developed countries. Aims and Objective: (1) Prevalence of amblyopia among adult population attending our hospital. (
Sujit Das, Sukhdayal S. Shergill
doaj   +1 more source