Results 31 to 40 of about 13,246 (176)

Bibliometric analysis of pediatric glaucoma

Indian Journal of Ophthalmology, 2023
Purpose: The research activity in pediatric glaucoma (PG) was qualitatively and quantitatively evaluated using a scientometric approach. Methods: The “Web of Science” database was accessed for primary bibliometric data regarding PG using search terms ...
Divya Jain, Anjan Kumar Dhua
doaj   +1 more source

Current surgical techniques for the management of pediatric glaucoma: A literature review

Frontiers in Ophthalmology, 2023
Pediatric glaucoma surgery is challenging due to its diverse and complex pathophysiology, altered anterior segment anatomy, greater potential for failure, and complications compared to adult patients.
Zeynep Aktas, Gokcen Deniz Gulpinar Ikiz
doaj   +1 more source

Modulation of Presynaptic Inhibitory Retinal Circuits for Retinal Ganglion Cell Neuroprotection in Glaucoma

Advanced Science, EarlyView.
Ocular hypertension induces early hyperactivity in inner retinal inhibitory circuitry before substantial retinal ganglion cell loss. Sustained pharmacological inhibition of GABAergic/glycinergic neurotransmission and Vgat‐targeted Lin28 expression suppress this hyperactivity and improve RGC survival without reducing intraocular pressure. These findings
Eunji Hong, Chen Lin, Wenjie Long, Ian Kim, Mengwen Xiong, Zuer Wu, Siyuan Rao, Qianbin Wang   +7 more
wiley   +1 more source

Multicenter Validation of Machine Learning Models for Predicting Myopia Progression Across School‐Based Screening and Optical Intervention Settings in Chinese Children and Adolescents

Advanced Intelligent Discovery, EarlyView.
Machine‐learning models predict myopia trajectories from 12 routine ocular variables in 40 445 children across 10 hospitals. Externally validated across school‐based screening and optical‐intervention settings, the best models achieve AUROC 0.97 for myopia status and R2 0.83 for spherical equivalent, enabling personalized risk stratification to curb ...
Yitong Zhang, Mingxuan Liu, Yifei Chen, Ying Wu, Lijun Zhang, Mengyao Guo, Yulan Yan, Runmei Wei, Zihan Cui, Peng Luo, Fang Chen, Bo Yang, Youcang Han, Xiaoyang Liu, Qiyuan Tian   +14 more
wiley   +1 more source

Ocular and Systemic Findings in COL2A1 and COL11A1 Stickler Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Stickler syndrome is most commonly caused by variants in COL2A1 and COL11A1 genes. The purpose of this study was to describe genetic variants and phenotypes in COL2A1 and COL11A1 Stickler syndrome. We performed a retrospective genotype–phenotype evaluation of COL2A1 and COL11A1 Stickler syndrome subjects. Thirty‐two subjects with COL2A1 and 13
Aileen G. MacLachlan, Jessica A. Kraker, Denise J. Morgan, Lisa A. Schimmenti, M. Elizabeth Hartnett, Eileen S. Hwang   +5 more
wiley   +1 more source

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert, Gudny Anna Arnadottir, Laura Bedinger, Nicola Brunetti‐Pierri, Jennifer Cech, Xin Chen, Yanmin Chen, Erika Chick, Sarah Dyack, Madeleine Franchi, Tanja Frey, David Genevieve, Ian Glass, Jorge Granadillo, Kelly A. Keener, Sara B. MacKay, Paige McDunnah, Vinod K. Misra, Kristin G. Monaghan, Sureni V. Mullegama, Cristina Peduto, Leia Peterman‐Prather, Anita Rauch, Cherith Somerville, Kari Stefansson, Katharina Steindl, Patrick Sulem, Telma Sulem, Pamela Trapane, Roberta Zeuli, Samuel Zinner, Kosuke Izumi   +31 more
wiley   +1 more source

Biallelic PAX6 Variants in an Adult With Severe Microphthalmia and Preserved Intellectual Function

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT PAX6 encodes a dosage‐sensitive transcription factor that is essential for eye development. Heterozygous PAX6 disease is well characterized, but biallelic disease is extremely rare and has been associated with anophthalmia, severe brain malformations, and perinatal lethality.
Karl De Geer, Britt‐Marie Anderlid, Lena Jacobson, Daniel Martín Muñoz, Erik Björck   +4 more
wiley   +1 more source

The Paediatric Glaucoma Diagnostic Ability of Optical Coherence Tomography: A Comparison of Macular Segmentation and Peripapillary Retinal Nerve Fibre Layer Thickness

Biology, 2021
Paediatric glaucoma leads to a decreased thickness of the peripapillary retinal nerve fibre layer (pRNFL) and of the macula. These changes can be precisely quantified using spectral domain-optical coherence tomography (SD-OCT).
Mael Lever, Christian Halfwassen, Jan Darius Unterlauft, Nikolaos E. Bechrakis, Anke Manthey, Michael R. R. Böhm   +5 more
doaj   +1 more source

Vocational and Educational Outcomes in Adults With Sturge–Weber Syndrome: Preliminary Results From a Clinical Needs Assessment

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Objective The clinical presentation of Sturge–Weber syndrome (SWS) is highly variable, with seizures during infancy and co‑occurring neurodevelopmental conditions commonly reported. Although these features are known to affect childhood functioning, their relationship to adult vocational and educational outcomes remains poorly understood.
Katharine E. Joslyn, Catherine Stephan, Anne M. Comi, Andrew T. Zabel   +3 more
wiley   +1 more source

Genetic developmental and epileptic encephalopathies in adulthood: Gaps in evidence and care

Epilepsia Open, EarlyView.
Abstract Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of the most severe epilepsies, characterized by seizure onset and neurodevelopmental delay in infancy or childhood, often with additional neurological and systemic comorbidities.
Alex M. Dudley, Peter Widdess‐Walsh, Christine Linehan, Danielle M. Andrade, Norman Delanty, Patrick B. Moloney   +5 more
wiley   +1 more source