Results 61 to 70 of about 8,757 (220)

Genetic risk factors in Finnish patients with Fuchs endothelial corneal dystrophy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To study the genetic risk factors of Fuchs endothelial corneal dystrophy (FECD) in the Finnish population using hospital‐based and large biobank cohorts. Methods We genotyped a cohort of 107 Finnish patients with FECD for the primary associated genetic risk factor, the TCF4 (CTG)>50 expansion, and studied their clinical phenotype.
Inka‐Tuulevi Vähämäki, Annamari T. Immonen, Joel T. Rämö, Aino M. Jaakkola, Kari Krootila, Maria Kaukonen, FinnGen, Aarno Palotie, Hannes Lohi, Tero T. Kivelä, Joni A. Turunen   +10 more
wiley   +1 more source

Corneal clearance and central endothelial cell repopulation despite graft detachment after Descemet membrane endothelial keratoplasty

GMS Ophthalmology Cases, 2019
Objective: Descemet membrane endothelial keratoplasty (DMEK) is the gold standard procedure for treatment of primary corneal endothelial disorders. Graft detachment is a frequent complication of DMEK, which often requires re-operation or re-bubbling ...
Daravagka, Maria, Nestler, Andrei, Wiedemann, Peter, Girbardt, Christian   +3 more
doaj   +1 more source

Late-onset Candida keratitis after Descemet stripping automated endothelial keratoplasty : clinical and confocal microscopic report [PDF]

, 2011
Purpose. To report clinical and confocal microscopy features of late-onset Candida albicans keratitis after Descemet stripping automated keratoplasty (DSAEK). Methods.
Arance-Gil, Ángeles, González-Méijome, José Manuel, Gutiérrez, Ángel Ramón, Higueras-Esteban, Alejandro, Ortiz-Gomariz, Amanda, Villa-Collar, César   +5 more
core   +1 more source

Pathological classification of Fuchs endothelial corneal dystrophy into several types and their relationships with CTG18.1 expansion repeats

The Journal of Pathology, Volume 269, Issue 2, Page 182-196, June 2026.
Abstract Late‐onset Fuchs endothelial corneal dystrophy (FECD) is the most common primary disease of the corneal endothelium and the leading indication for corneal transplantation in Western countries. It is characterized by progressive accumulation, over two to three decades, of extracellular matrix (ECM) components in Descemet's membrane (DM ...
Hanielle Vaitinadapoulé, Daria Onitiu, Corantin Maurin, Gauthier Travers, Emmanuel Crouzet, Oliver Dorado‐Cortez, Sylvain Poinard, Zhiguo He, Fabien Forest, Edouard Ollier, Renaud Touraine, Philippe Gain, Jean‐Marc Perone, Gilles Thuret, the French Fuchs Study Group (FFSG), Diane Bernheim, Christophe Chiquet, Vincent Borderie, Tristan Bourcier, Jean‐Louis Bourges, Frédéric Chiambaretta, Béatrice Cochener, Louis Arnould, Florian Baudin, Catherine Creuzot, Vincent Daien, Alexandre Denoyer, Bernard Duchesne, Nicolas Duquesne, Pierre Fournie, Anne‐Sophie Gauthier, Philippe Gain, Gilles Thuret, Louis Hoffart, François Majo, Marc Muraine, Romain Mouchel, Jean Marc Perone, Jean Claude Quintyn, Alexandra Rabot, Alain Saad, Damien Gatinel, Pierre‐Yves Santiago, Jean‐Michel Bosc, David Touboul, Bertrand Vabres   +45 more
wiley   +1 more source

Aminoacyl‐tRNA Synthetases: Variant Classification, Functional Assays, and Emerging Therapeutic Strategies

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Aminoacyl‐tRNA synthetases (aaRS) are essential enzymes that charge tRNAs with their corresponding amino acids, playing a critical role in protein synthesis. All 37 nuclear‐encoded ARS genes, comprising both cytosolic (ARS1) and mitochondrial (ARS2) isoforms, have now been linked to human disease.
M. I. Mendes, D. E. Smith, V. Spek, A. M. Bosch, W. E. Corpeleijn, M. Engelen, S. A. Fuchs, A. Hadchouel, I. U. Heinemann, R. H. Houtkooper, E. M. M. Hoytema van Konijnenburg, S. Kemp, M. Langeveld, C. D. M. Karnebeek, A. Pop, V. M. Siu, N. I. Wolf, G. S. Salomons   +17 more
wiley   +1 more source

Automated detection and classification of nuclei in immunohistochemical stainings for Fuchs' endothelial corneal dystrophy [PDF]

, 2006
Fuchs’ endothelial corneal dystrophy (FECD) is a degenerative disease that affects the elderly population, and which lacks a unifying pathogenic theory and tangible drug targets.
Janssens, Thomas, De Roo, An-Katrien, Foets, Beatrijs, van den Oord, Joost, Van den Berghe, Greet, Güiza, Fabian   +5 more
core   +2 more sources

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

SLC4A11 depletion impairs NRF2 mediated antioxidant signaling and increases reactive oxygen species in human corneal endothelial cells during oxidative stress

Scientific Reports, 2017
Corneal endothelial dystrophy is a progressive disease with gradual loss of vision and characterized by degeneration and dysfunction of corneal endothelial cells.
Sanjukta Guha, Sunita Chaurasia, Charanya Ramachandran, Sanhita Roy   +3 more
doaj   +1 more source

Phototherapeutic keratectomy for anterior stromal fibrosis following DMEK

American Journal of Ophthalmology Case Reports, 2020
Purpose: Anterior stromal fibrosis is often seen in advanced cases of Fuchs endothelial dystrophy or secondary endothelial insufficiency. As Descemet membrane endothelial keratoplasty (DMEK) can completely eliminate the corneal edema and the guttae in ...
Philip Maier, Thomas Reinhard
doaj   +1 more source

Update on the genetics of corneal endothelial dystrophies

Indian Journal of Ophthalmology, 2022
Corneal endothelial dystrophies are a heterogeneous group of diseases with different modes of inheritance and genetic basis for each dystrophy. The genes associated with these diseases encode transcription factors, structural components of the stroma and
Chitra Kannabiran, Sunita Chaurasia, Muralidhar Ramappa, Venkateswara Vinod Mootha   +3 more
doaj   +1 more source