Results 91 to 100 of about 40,082 (242)

Aniridia‐associated keratopathy: Clinical and molecular mechanisms of disease progression and emerging therapeutic targets

Acta Ophthalmologica, EarlyView.
Abstract Congenital aniridia is a rare genetic disorder primarily caused by pathogenic variants of the PAX6 gene. It leads to various panocular anomalies, including aniridia‐associated keratopathy (AAK). This review highlights recent insights into its pathogenesis, focusing on clinical staging, microstructural changes in the cornea and molecular ...
N. Szentmáry, S. Suiwal, M. Amini, F. N. Fries, A. Náray, L. Latta, Z. Li, S. Li, S. Liu, S. L. Hsu, S. Kundu, G. Tóth, S. Trusen, J. Zimmermann, B. Seitz, B. Käsmann‐Kellner, Z. Hoxha, A. Langenbucher, O. Stachs, M. Cortón‐Perez, K. Tory, A. Csorba, Z. Z. Nagy, M. C. Acosta, J. Gallar, M. Csidey, E. Maka, T. Stachon   +27 more
wiley   +1 more source

Ocular manifestations in Gorlin-Goltz syndrome [PDF]

, 2019
Background: Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, is a rare genetic disorder that is transmitted in an autosomal dominant manner with complete penetrance and variable expressivity.
Franzone, F., Giustini, S., Himmelblau, E., Iacovino, C., Lambiase, A., Mallone, F., Miraglia, E., Moramarco, A., Roberti, V.   +8 more
core   +1 more source

Adult‐onset Coats disease: A systematic review and meta‐analysis of imaging biomarkers and targeted therapies

Acta Ophthalmologica, EarlyView.
Abstract Coats disease diagnosed in adulthood is a rare idiopathic retinal telangiectatic vasculopathy that may differ in phenotype from childhood‐diagnosed cases. This systematic review synthesizes current evidence to characterize its clinical spectrum, imaging features, treatment outcomes and underlying mechanisms, with a focus on immunovascular ...
Catarina Francisco, Nisa Silva, Camiel J. F. Boon   +2 more
wiley   +1 more source

A muscular dystrophy associated with bi‐allelic LEMD2 variants: Expanding the genotype of nuclear envelopathies

Brain Pathology, EarlyView.
Proteomics‐guided exome re‐analysis identifies bi‐allelic variants in the nuclear envelope LEMD2 gene, expanding its phenotypic spectrum. Created in BioRender. Pauper, M. (2026) https://BioRender.com/xamvo92.
Marc Pauper, Heike Kölbel, Iakowos Karakesisoglou, Anne Schänzer, Johann Böhm, Rachel Thompson, Nicolai Kohlschmidt, Bernd Ringel, Gisèle Bonne, Katja Neuhoff, Andrea Gangfuß, Ozge Aksel Kilicarslan, Sergi Beltran Agullo, Andreas Hentschel, Ulrike Schara‐Schmidt, Hanns Lochmüller, Kiran Polavarapu, Andreas Roos   +17 more
wiley   +1 more source

Using primary health care (PHC) workers and key informants for community based detection of blindness in children in Southern Malawi. [PDF]

, 2012
BACKGROUND: There is great interest in providing primary eye care (PEC) through integration into primary health care (PHC). However, there is little evidence of the productivity of PHC workers in offering primary eye care after training and integration ...
Gilbert, Clare, Kalua, Khumbo, Mbewe, Frank, Ng'ongola, Ruby Tionenji   +3 more
core   +1 more source

Duration‐Dependent Efficacy and Clinical Safety of Repeated Low‐Level Red‐Light Therapy for Paediatric Myopia: A Systematic Review and Meta‐Analysis

Clinical &Experimental Ophthalmology, EarlyView.
ABSTRACT Background Repeated low‐level red‐light (RLRL) therapy is a novel, non‐invasive intervention for controlling paediatric myopia progression. Despite increasing clinical use, questions remain regarding the magnitude, durability, and safety of treatment effects.
Lee‐Yuan Lin, Cheng‐Hao Hsu, Hung Su, Jia‐Wei Sun, Jie‐Syuan Wu, Wei‐Jung Jeng, Chen‐Hsin Tsai, Fara Silvia Yuliani, Shyh‐Hsiang Lin   +8 more
wiley   +1 more source

Epithelial-mesenchymal transdifferentiation in pediatric lens epithelial cells [PDF]

, 2018
PURPOSE. Posterior capsule opacification (PCO) is a complication after cataract surgery, particularly in children. Epithelial-mesenchymal transition (EMT) of lens epithelial cells, mediated by transforming growth factor beta (TGF beta), contributes to ...
Keckeis, Susanne, Reichhart, Nadine, Salchow, Daniel J., Strauß, Olaf, Wernecke, Laura   +4 more
core   +1 more source

Expanding the Phenotypic Spectrum Associated With Loss‐of‐Function SMARCA4 Variants to Eye Developmental Anomalies

Clinical Genetics, EarlyView.
This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau, Marjolaine Willems, Abdelhakim Bouazzaoui, Léopoldine Lequeux, Julie Plaisancié, Salima El Chehadeh, Hélène Dollfus, Nicolas Chassaing   +7 more
wiley   +1 more source

Increased SK3 expression in DM1 lens cells leads to impaired growth through a greater calcium-induced fragility [PDF]

, 2006
Although cataract is a characteristic feature of myotonic dystrophy type 1 (DM1), little is known of the underlying mechanisms. We generated four lens epithelial cell lines derived from DM1 cataracts and two from age-matched, non-DM cataracts. Small-pool
Abe, Alan R. Prescott, Anvret, Behrens, Benders, Collison, Darren G. Monckton, Delamere, Diecke, Duke-Elder, Duncan, Dunne, Fleming, George Duncan, Gomes-Pereira, Gomes-Pereira, Harper, Harris, Hull, James, Jeremy D. Rhodes, Jin, John P. McAbney, Khajavi, Khan, Kimura, Klesert, Lauf, Monckton, O'Cochlain, Pham, Remillard, Renaud, Rhodes, Sanderson, Sarkar, Stocker, Sun, Tapscott, Vergara, Winchester   +40 more
core   +2 more sources

Thrombocytopenia and absent radii (TAR) syndrome associated with bilateral congenital cataract: a case report

Journal of Medical Case Reports, 2012
Introduction Thrombocytopenia with absent radii is a rare congenital defect with hypomegakaryocytic thrombocytopenia and bilateral radial aplasia that may have additional anomalies. We report the case of a girl baby with thrombocytopenia and absent radii
Omran Ahmed, Sahmoud Shaimaa, Peng Jing, Ashhab Usman, Yin Fei   +4 more
doaj   +1 more source