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https://www.readbyqxmd.com/read/28481834/immunohistochemical-profiling-of-corneas-with-fuchs-endothelial-corneal-dystrophy
#1
An-Katrien De Roo, Thomas Janssens, Beatrijs Foets, Joost J van den Oord
PURPOSE: Fuchs endothelial corneal dystrophy (FECD) is the leading indication for endothelial keratoplasty. Further insight into its pathophysiology is needed to develop alternative therapies. METHODS: Sixteen genes from a previous microarray expression experiment (FECD vs. normal) were validated using immunohistochemistry on paraffin-embedded corneas (n = 6 FECD, n = 6 normal). The results were quantified manually and semiautomatically. RESULTS: A higher percentage of corneal endothelial cells stained for alpha-smooth muscle actin (αSMA), cytokeratin 7, and superoxide dismutase 3 in FECD versus normal [odds ratios (ORs) of 60...
May 3, 2017: Cornea
https://www.readbyqxmd.com/read/28410548/two-year-clinical-outcome-of-500-consecutive-cases-undergoing-descemet-membrane-endothelial-keratoplasty
#2
Jorge Peraza-Nieves, Lamis Baydoun, Isabel Dapena, Abbas Ilyas, Laurence E Frank, Salvatore Luceri, Lisanne Ham, Silke Oellerich, Gerrit R J Melles
PURPOSE: To evaluate the clinical outcome of 500 consecutive cases up to 2 years after Descemet membrane endothelial keratoplasty (DMEK) and to assess which parameters may have influenced the clinical outcome. METHODS: From a group of 500 eyes (393 patients), which underwent DMEK for Fuchs endothelial corneal dystrophy (FECD), bullous keratopathy, failed corneal transplants and other indications, clinical outcomes [best-corrected visual acuity (BCVA), central endothelial cell density (ECD), and central corneal thickness] were evaluated before, and at 6, 12, and 24 months after DMEK and postoperative complications were documented...
June 2017: Cornea
https://www.readbyqxmd.com/read/28410355/descemetorhexis-without-graft-placement-for-the-treatment-of-fuchs-endothelial-dystrophy-preliminary-results-and-review-of-the-literature
#3
Alfonso Iovieno, Alberto Neri, Anna Maria Soldani, Chantal Adani, Luigi Fontana
PURPOSE: To report our preliminary experience with a central descemetorhexis without graft placement in Fuchs endothelial corneal dystrophy (FECD) and to review the existing literature on the topic. METHODS: A 4-mm central descemetorhexis was performed in 5 patients (4 women, 1 man; mean age: 69.8 ± 8.6 yrs; range: 57-78 yrs) with FECD. All patients had central confluent guttae, undetectable central endothelial cell count, healthy peripheral corneal endothelium, no clinically evident bullous keratopathy, and no ocular comorbidities...
June 2017: Cornea
https://www.readbyqxmd.com/read/28384203/comprehensive-characterization-of-dna-methylation-changes-in-fuchs-endothelial-corneal-dystrophy
#4
Emily Khuc, Russell Bainer, Marie Wolf, Selene M Clay, Daniel J Weisenberger, Jacquelyn Kemmer, Valerie M Weaver, David G Hwang, Matilda F Chan
Transparency of the human cornea is necessary for vision. Fuchs Endothelial Corneal Dystrophy (FECD) is a bilateral, heritable degeneration of the corneal endothelium, and a leading indication for corneal transplantation in developed countries. While the early onset, and rarer, form of FECD has been linked to COL8A2 mutations, the more common, late onset form of FECD has genetic mutations linked to only a minority of cases. Epigenetic modifications that occur in FECD are unknown. Here, we report on and compare the DNA methylation landscape of normal human corneal endothelial (CE) tissue and CE from FECD patients using the Illumina Infinium HumanMethylation450 (HM450) DNA methylation array...
2017: PloS One
https://www.readbyqxmd.com/read/28358029/genome-wide-association-study-identifies-three-novel-loci-in-fuchs-endothelial-corneal-dystrophy
#5
Natalie A Afshari, Robert P Igo, Nathan J Morris, Dwight Stambolian, Shiwani Sharma, V Lakshmi Pulagam, Steven Dunn, John F Stamler, Barbara J Truitt, Jacqueline Rimmler, Abraham Kuot, Christopher R Croasdale, Xuejun Qin, Kathryn P Burdon, S Amer Riazuddin, Richard Mills, Sonja Klebe, Mollie A Minear, Jiagang Zhao, Elmer Balajonda, George O Rosenwasser, Keith H Baratz, V Vinod Mootha, Sanjay V Patel, Simon G Gregory, Joan E Bailey-Wilson, Marianne O Price, Francis W Price, Jamie E Craig, John H Fingert, John D Gottsch, Anthony J Aldave, Gordon K Klintworth, Jonathan H Lass, Yi-Ju Li, Sudha K Iyengar
The structure of the cornea is vital to its transparency, and dystrophies that disrupt corneal organization are highly heritable. To understand the genetic aetiology of Fuchs endothelial corneal dystrophy (FECD), the most prevalent corneal disorder requiring transplantation, we conducted a genome-wide association study (GWAS) on 1,404 FECD cases and 2,564 controls of European ancestry, followed by replication and meta-analysis, for a total of 2,075 cases and 3,342 controls. We identify three novel loci meeting genome-wide significance (P<5 × 10(-8)): KANK4 rs79742895, LAMC1 rs3768617 and LINC00970/ATP1B1 rs1200114...
March 30, 2017: Nature Communications
https://www.readbyqxmd.com/read/28346276/comparison-of-noncontact-specular-and-confocal-microscopy-for-evaluation-of-corneal-endothelium
#6
Jianyan Huang, Jyotsna Maram, Tudor C Tepelus, Srinivas R Sadda, Vikas Chopra, Olivia L Lee
PURPOSE: To compare endothelial cell analysis obtained by noncontact specular and confocal microscopy, using the Konan NSP-9900 and Nidek ConfoScan4 systems, respectively. METHODS: Three groups including 70 healthy eyes, 49 eyes with Fuchs endothelial corneal dystrophy (FECD), and 78 eyes with glaucoma were examined with both the Konan NSP-9900 specular microscope and the Nidek ConfocScan4 confocal microscope. Certified graders at the Doheny Image Reading Center compared corneal endothelial images from both instruments side by side to assess image quality...
March 24, 2017: Eye & Contact Lens
https://www.readbyqxmd.com/read/28258620/changes-in-lipidomic-profile-of-aqueous-humour-in-fuchs-endothelial-dystrophy
#7
Javier Cabrerizo, Javier Aritz Urcola, Elena Vecino, Gerrit Melles
PURPOSE: To identify and determine differences in lipid profile of aqueous humour (AH) in patients with Fuchs endothelial corneal dystrophy (FECD). METHODS: Lipidomic profile of eight AH samples of FECD patients and 10 control samples was analysed. Patients with previous history of anterior segment surgery, anterior segment pathology or intraocular injections were excluded. Topical ocular medications within the last 6 months were reported. Aqueous humour (AH) was obtained during the first step of Descemet membrane endothelial keratoplasty in FECD patients and during refractive lensectomy in the control group...
March 4, 2017: Acta Ophthalmologica
https://www.readbyqxmd.com/read/28135362/identification-of-circulating-fibrocytes-and-dendritic-derivatives-in-corneal-endothelium-of-patients-with-fuchs-dystrophy
#8
An-Katrien De Roo, Jasper Wouters, Olivier Govaere, Beatrijs Foets, Joost J van den Oord
Purpose: Fuchs' endothelial corneal dystrophy (FECD) is a degenerative eye disorder affecting 4% of Americans older than 40. It is the leading indication for corneal endothelial (CE) transplantation for which there is a global donor shortage. This study aimed to gain further insight into the pathophysiology of FECD and identify targets for nonsurgical therapy. Methods: CE from patients with late-onset FECD was compared with that of normal controls using microarray expression analysis (n = 4 FECD, n = 4 normal), reverse transcriptase quantitative PCR (n = 9 FECD, n = 8 normal), and immunohistology (n = 55 FECD, n = 15 normal)...
January 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28118661/trinucleotide-repeat-expansion-in-the-transcription-factor-4-tcf4-gene-leads-to-widespread-mrna-splicing-changes-in-fuchs-endothelial-corneal-dystrophy
#9
Eric D Wieben, Ross A Aleff, Xiaojia Tang, Malinda L Butz, Krishna R Kalari, Edward W Highsmith, Jin Jen, George Vasmatzis, Sanjay V Patel, Leo J Maguire, Keith H Baratz, Michael P Fautsch
Purpose: To identify RNA missplicing events in human corneal endothelial tissue isolated from Fuchs' endothelial corneal dystrophy (FECD). Methods: Total RNA was isolated and sequenced from corneal endothelial tissue obtained during keratoplasty from 12 patients with FECD and 4 patients undergoing keratoplasty or enucleation for other indications. The length of the trinucleotide repeat (TNR) CTG in the transcription factor 4 (TCF4) gene was determined using leukocyte-derived DNA analyzed by a combination of Southern blotting and Genescan analysis...
January 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/27820951/elevated-cytokine-levels-in-the-aqueous-humor-of-eyes-with-bullous-keratopathy-and-low-endothelial-cell-density
#10
Takefumi Yamaguchi, Kazunari Higa, Terumasa Suzuki, Naohiko Nakayama, Yukari Yagi-Yaguchi, Murat Dogru, Yoshiyuki Satake, Jun Shimazaki
Purpose: To evaluate cytokine levels in the aqueous humor (AqH) of eyes with bullous keratopathy (BK) and low endothelial cell density (ECD). Methods: A total of 145 AqH samples (60 BK, 16 low ECD, 35 corneal diseases with normal ECD, and 34 normal controls) were collected from consecutive patients who underwent corneal transplantation or cataract surgery. None of the patients had any clinically apparent inflammation at the time of AqH collection. The AqH levels of cytokines (IL-1α, IL-1β, IL-2, IL-4, IL-6, IL-8, IL-10, IL-12p70, IL-13, IL-17A, IFN-α, IFN-γ, monocyte chemotactic protein [MCP]-1, TNF-α, E-selectin, P-selectin, soluble intercellular adhesion molecule [sICAM]-1, granulocyte-macrophage colony-stimulating factor [GM-CSF], macrophage inflammatory protein [MIP] -1α and MIP-1β) were compared among the groups...
November 1, 2016: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/27802523/restoration-of-mitochondrial-integrity-telomere-length-and-sensitivity-to-oxidation-by-in-vitro-culture-of-fuchs-endothelial-corneal-dystrophy-cells
#11
Sébastien P Gendron, Mathieu Thériault, Stéphanie Proulx, Isabelle Brunette, Patrick J Rochette
Purpose: Fuchs' endothelial corneal dystrophy (FECD), a degenerative disease of the corneal endothelium that leads to vision loss, is a leading cause of corneal transplantation. The cause of this disease is still unknown, but the implication of oxidative stress is strongly suggested. In this study, we analyzed the impact of FECD on mitochondrial DNA (mtDNA) integrity and telomere length, both of which are affected by the oxidative status of the cell. Methods: We compared the levels of total mtDNA, mtDNA common deletion (4977 bp), and relative telomere length in the corneal endothelial cells of fresh Descemet's membrane-endothelium explants and cultured cells from healthy and late stage FECD subjects...
November 1, 2016: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/27661858/corneal-hydration-control-in-fuchs-endothelial-corneal-dystrophy
#12
Katrin Wacker, Jay W McLaren, Katrina M Kane, Keith H Baratz, Sanjay V Patel
Purpose: To assess corneal hydration control across a range of severity of Fuchs' endothelial corneal dystrophy (FECD) by measuring the percent recovery per hour (PRPH) of central corneal thickness after swelling the cornea and to determine its association with corneal morphologic parameters. Methods: Twenty-three corneas of 23 phakic FECD patients and 8 corneas of 8 healthy control participants devoid of guttae were graded (modified Krachmer scale). Effective endothelial cell density (ECDe) was determined from the area of guttae and local cell density in confocal microscopy images...
September 1, 2016: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/27639969/existence-of-neural-crest-derived-progenitor-cells-in-normal-and-fuchs-endothelial-dystrophy-corneal-endothelium
#13
Kishore Reddy Katikireddy, Thore Schmedt, Marianne O Price, Francis W Price, Ula V Jurkunas
Human corneal endothelial cells are derived from neural crest and because of postmitotic arrest lack competence to repair cell loss from trauma, aging, and degenerative disorders such as Fuchs endothelial corneal dystrophy (FECD). Herein, we identified a rapidly proliferating subpopulation of cells from the corneal endothelium of adult normal and FECD donors that exhibited features of neural crest-derived progenitor (NCDP) cells by showing absence of senescence with passaging, propensity to form spheres, and increased colony forming efficacy compared with the primary cells...
October 2016: American Journal of Pathology
https://www.readbyqxmd.com/read/27631348/evaluation-of-visual-quality-in-patients-with-fuchs-endothelial-corneal-dystrophy
#14
REVIEW
Yoshinori Oie, Shinya Watanabe, Kohji Nishida
Fuchs endothelial corneal dystrophy (FECD) is a bilateral corneal endothelial dystrophy characterized by the deposition of extracellular matrix (guttae), thickening of Descemet membrane, and progressive loss of corneal endothelial cells. Progressive endothelial cellular loss leads to corneal edema and impairs visual function. In eyes with FECD, corneal edema begins in the central cornea and expands into the periphery. FECD is the most common dystrophic reason for corneal transplantation in many countries. Some patients with FECD report visual discomfort despite the absence of corneal edema...
November 2016: Cornea
https://www.readbyqxmd.com/read/27609713/splitting-of-the-recipient-s-descemet-membrane-in-descemet-membrane-endothelial-keratoplasty-ultrastructure-and-clinical-relevance
#15
Julia M Weller, Ursula Schlötzer-Schrehardt, Friedrich E Kruse, Theofilos Tourtas
PURPOSE: In Descemet membrane endothelial keratoplasty (DMEK), lamellar splitting of the Descemet membrane (DM) may occur during stripping of host DM, leaving residual DM on the recipient's DMEK interface. The purpose of this study was to determine the incidence rate of lamellar splitting of DM during DMEK and to describe the ultrastructure of DM in these eyes. DESIGN: Retrospective consecutive case series. METHODS: setting: Institutional, single-center...
December 2016: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/27581649/multifunctional-ion-transport-properties-of-human-slc4a11-comparison-of-the-slc4a11-b-and-slc4a11-c-variants
#16
Liyo Kao, Rustam Azimov, Xuesi M Shao, Ricardo F Frausto, Natalia Abuladze, Debra Newman, Anthony J Aldave, Ira Kurtz
Congenital hereditary endothelial dystrophy (CHED), Harboyan syndrome (CHED with progressive sensorineural deafness), and potentially a subset of individuals with late-onset Fuchs' endothelial corneal dystrophy are caused by mutations in the SLC4A11 gene that results in corneal endothelial cell abnormalities. Originally classified as a borate transporter, the function of SLC4A11 as a transport protein remains poorly understood. Elucidating the transport function(s) of SLC4A11 is needed to better understand how its loss results in the aforementioned posterior corneal dystrophic disease processes...
November 1, 2016: American Journal of Physiology. Cell Physiology
https://www.readbyqxmd.com/read/27533017/racial-ethnic-differences-in-rates-of-penetrating-or-endothelial-keratoplasty-for-fuchs-endothelial-corneal-dystrophy-among-us-medicare-beneficiaries
#17
MULTICENTER STUDY
Michael A Mahr, Keith H Baratz, David O Hodge, Jay C Erie
Importance: Fuchs endothelial corneal dystrophy (FECD) is the most common indication for corneal transplant in the United States. The association between race/ethnicity and incidence of advanced FECD, defined by a need for endothelial or penetrating keratoplasty, has not been investigated. Observations: The 2014 US Medicare Limited Data Set (5% sample of 27 163 740 fee-for-service Medicare patients) was analyzed for rate of keratoplasty performed for FECD (International Classification of Diseases, Ninth Edition code 371...
October 1, 2016: JAMA Ophthalmology
https://www.readbyqxmd.com/read/27490049/microrna-29b-overexpression-decreases-extracellular-matrix-mrna-and-protein-production-in-human-corneal-endothelial-cells
#18
Tetsuya Toyono, Tomohiko Usui, Guadalupe Villarreal, Laura Kallay, Mario Matthaei, Lucas M M Vianna, Angela Y Zhu, Masahiko Kuroda, Shiro Amano, Albert S Jun
PURPOSE: MicroRNAs are small noncoding RNAs that regulate gene expression at the posttranscriptional level. We reported that levels of microRNA (miR)-29 family are decreased in corneas of patients with Fuchs endothelial corneal dystrophy (FECD). The miR-29 family regulates the production of extracellular matrix (ECM) proteins. Accumulation of ECM proteins in Descemet membrane is an important pathologic change in FECD. In this study, we transfected miR-29b into human corneal endothelial cells and tissues and evaluated ECM protein expression levels...
November 2016: Cornea
https://www.readbyqxmd.com/read/27454658/in-vivo-imaging-of-corneal-endothelial-dystrophy-in-boston-terriers-a-spontaneous-canine-model-for-fuchs-endothelial-corneal-dystrophy
#19
Sara M Thomasy, Dennis E Cortes, Alyssa L Hoehn, Allison C Calderon, Jennifer Y Li, Christopher J Murphy
PURPOSE: Boston Terriers (BTs) have a greater prevalence of corneal endothelial dystrophy (CED), in comparison to other canine breeds. Similar to Fuchs' endothelial corneal dystrophy (FECD), this condition is characterized by endothelial cell degeneration with secondary corneal edema. This study assessed corneal morphology using in vivo confocal microscopy (IVCM) and Fourier-domain optical coherence tomography (FD-OCT) in BTs with and without CED. METHODS: The corneas of 16 BTs with CED and 15 unaffected, age-matched BTs underwent clinical evaluation and were imaged using IVCM and FD-OCT...
July 1, 2016: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/27442316/coenzyme-q10-in-the-treatment-of-corneal-edema-in-kearns-sayre-is-there-an-application-in-fuchs-endothelial-corneal-dystrophy
#20
REVIEW
Jocelyn Kim, Anagha Medsinge, Bharesh Chauhan, Cara Wiest, Hannah Scanga, Rachael Monaghan, William H Moore, Ken K Nischal
PURPOSE: Corneal involvement in mitochondrial disease is seldom described. Kearns-Sayre syndrome (KSS) is a mitochondrial disorder characterized by retinitis pigmentosa, external ophthalmoplegia, and heart block. We report 2 patients with KSS with corneal lesions involving the endothelium, which improved with Coenzyme Q10 (CoQ10). Based on recent research regarding the role of dysfunctional oxidative metabolism in Fuchs Endothelial Corneal Dystrophy (FECD), we propose that mitochondrial diseases and FECD share a final pathway...
September 2016: Cornea
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