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Fuchs' corneal dystrophy

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https://www.readbyqxmd.com/read/29787599/pathological-molecular-mechanism-of-symptomatic-late-onset-fuchs-endothelial-corneal-dystrophy-by-bioinformatic-analysis
#1
Zekai Cui, Qiaolang Zeng, Yonglong Guo, Shiwei Liu, Peiyuan Wang, Mengyuan Xie, Jiansu Chen
Fuchs endothelial corneal dystrophy (FECD) is a degenerative disease characterized by corneal endothelial decompensation. FECD causes corneal stromal and epithelial edema and progressively develops into bullous keratopathy, which can eventually lead to blindness. However, the exact pathogenesis is unknown. In this study, we performed an in-depth bioinformatic analysis of the dataset GSE74123 to determine the differentially expressed genes (DEGs) of symptomatic late-onset FECD compared with a normal control...
2018: PloS One
https://www.readbyqxmd.com/read/29781926/repeatability-and-intersession-reproducibility-of-pentacam-corneal-thickness-maps-in-fuchs-dystrophy-and-endothelial-keratoplasty
#2
David Mingo-Botín, Francisco Arnalich-Montiel, Ana Couceiro de Juan, Sara Ortiz-Toquero
PURPOSE: To assess intrasession repeatability and intersession reproducibility of Pentacam corneal thickness maps in patients with Fuchs endothelial corneal dystrophy (FECD) before and after endothelial transplantation. METHODS: In this observational diagnostic evaluation, 20 healthy subjects along with 81 consecutive patients were examined. Patients were classified into 4 groups: FECD without corneal edema, FECD with corneal edema, Descemet stripping automated endothelial keratoplasty, and Descemet membrane endothelial keratoplasty...
May 16, 2018: Cornea
https://www.readbyqxmd.com/read/29773458/outcomes-of-conventional-phacoemulsification-versus-femtosecond-laser-assisted-cataract-surgery-in-eyes-with-fuchs-endothelial-corneal-dystrophy
#3
Dagny C Zhu, Parth Shah, William J Feuer, Wei Shi, Ellen H Koo
PURPOSE: To compare the outcomes in eyes with Fuchs endothelial corneal dystrophy after standard phacoemulsification with those of femtosecond laser-assisted cataract surgery. SETTING: Bascom Palmer Eye Institute, Miami, Florida, USA. DESIGN: Retrospective case series. METHODS: Charts from patients diagnosed with Fuchs endothelial corneal dystrophy who had phacoemulsification cataract surgery at Bascom Palmer Eye Institute between January 1, 2014, and January 1, 2017, were reviewed...
May 15, 2018: Journal of Cataract and Refractive Surgery
https://www.readbyqxmd.com/read/29737973/in-vivo-endothelial-cell-density-decline-in-the-early-postoperative-phase-after-descemet-membrane-endothelial-keratoplasty
#4
Alina Miron, Marieke Bruinsma, Lisanne Ham, Sontje-Chiao Schaal, Lamis Baydoun, Isabel Dapena, Silke Oellerich, Gerrit R J Melles
PURPOSE: To evaluate endothelial cell density (ECD) in the first 6 months after Descemet membrane endothelial keratoplasty (DMEK) by eliminating method error as a confounding variable. METHODS: From 24 DMEK eyes operated for Fuchs endothelial corneal dystrophy, from which specular microscopy images could be taken at 1 day and 6 months postoperatively, ECD values were compared between these 2 time points. RESULTS: Using the 1-day ECD measurement as baseline, mean ECD decreased from 1913 (±326) cells/mm to 1524 (±393) cells/mm at 6 months, a decline of -18 (±19)%...
June 2018: Cornea
https://www.readbyqxmd.com/read/29731147/five-year-graft-survival-of-descemet-membrane-endothelial-keratoplasty-ek-versus-descemet-stripping-ek-and-the-effect-of-donor-sex-matching
#5
David A Price, Meagan Kelley, Francis W Price, Marianne O Price
PURPOSE: To determine whether the reduced risk of immunologic rejection with Descemet membrane endothelial keratoplasty (DMEK) results in a 5-year survival advantage relative to Descemet stripping endothelial keratoplasty (DSEK) and to determine whether matching the donor and recipient sex affects the rejection episode and graft survival rates. DESIGN: Retrospective cohort study. PARTICIPANTS: Patients with Fuchs' endothelial corneal dystrophy treated with DSEK or DMEK...
May 3, 2018: Ophthalmology
https://www.readbyqxmd.com/read/29723889/medical-and-semi-surgical-treatments-for-fuchs-endothelial-corneal-dystrophy
#6
Katrin Wacker, Keith H Baratz, Michael P Fautsch, Sanjay V Patel
Unraveling the genetic mechanisms of Fuchs endothelial corneal dystrophy has opened new possibilities for future targeted medical therapy of the disease. Until these possibilities mature, regenerative semi-surgical approaches by cell injection or cell sheet transfer could help expand the donor pool, and possibly enable autologous transplantation. Descemet membrane stripping alone and acellular Descemet membrane transfer are more immediate surgical approaches that could be temporary treatments in some patients, though there is a lack of understanding of the factors that predict success for these procedures...
May 3, 2018: Klinische Monatsblätter Für Augenheilkunde
https://www.readbyqxmd.com/read/29716785/hyperopic-trend-after-cataract-surgery-in-eyes-with-fuchs-endothelial-corneal-dystrophy
#7
Katrin Wacker, Lilian C B Cavalcante, Keith H Baratz, Sanjay V Patel
No abstract text is available yet for this article.
April 28, 2018: Ophthalmology
https://www.readbyqxmd.com/read/29698634/function-related-protein-expression-in-fuchs-endothelial-corneal-dystrophy-cells-and-tissue-models
#8
Mathieu Thériault, Sébastien P Gendron, Isabelle Brunette, Patrick J Rochette, Stéphanie Proulx
Fuchs endothelial corneal dystrophy (FECD) is a corneal pathology that affects the endothelial cell ability to maintain deturgescence, resulting in a progressive loss of corneal transparency. In this study, we investigated the expression of function-related proteins in corneal endothelial cells using FECD or healthy corneal endothelial cells, either in a cell culture 2D model or in an engineered corneal endothelium 3D tissue model. No statistically significant difference in gene regulation was observed for the function-related families ATP1, SLC4, SLC16, AQP, TJP, and CDH between the FECD and the healthy cell models...
April 23, 2018: American Journal of Pathology
https://www.readbyqxmd.com/read/29677349/repeat-associated-non-atg-ran-translation-in-fuchs-endothelial-corneal-dystrophy
#9
Elisabetta Soragni, Lina Petrosyan, Tommy A Rinkoski, Eric D Wieben, Keith H Baratz, Michael P Fautsch, Joel M Gottesfeld
Purpose: The strongest genetic association with Fuchs' endothelial corneal dystrophy (FECD) is the presence of an intronic (CTG·CAG)n trinucleotide repeat (TNR) expansion in the transcription factor 4 (TCF4) gene. Repeat-associated non-ATG (RAN) translation, an unconventional protein translation mechanism that does not require an initiating ATG, has been described in many TNR expansion diseases, including myotonic dystrophy type 1 (DM1). Given the similarities between DM1 and FECD, we wished to determine whether RAN translation occurs in FECD...
April 1, 2018: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29677003/identification-of-a-novel-tcf4-isoform-in-the-human-corneal-endothelium
#10
Allen O Eghrari, Shivakumar Vasanth, Briana C Gapsis, Henry Bison, Ula Jurkunas, S Amer Riazuddin, John D Gottsch
PURPOSE: Alternative splice isoforms of TCF4, a gene implicated in Fuchs corneal dystrophy, have been identified in multiple human tissues outside of the eye. The aim of this study was to identify the transcriptional profile of TCF4 in the corneal endothelium. METHODS: We extracted RNA from the donor corneal endothelium and performed rapid amplification of cDNA ends. We tested the expression pattern of 1 newly identified isoform (7b) in a panel of cDNA derived from multiple human tissues and included cDNA from corneal endothelial (CE) and retinal pigment epithelial cell lines...
April 19, 2018: Cornea
https://www.readbyqxmd.com/read/29676012/further-audiovestibular-characterization-of-dfnb77-caused-by-deleterious-variants-in-loxhd1-and-investigation-into-the-involvement-of-fuchs-corneal-dystrophy
#11
M Wesdorp, V Schreur, A J Beynon, J Oostrik, J M van de Kamp, M W Elting, M-J H van den Boogaard, I Feenstra, R J C Admiraal, H P M Kunst, C B Hoyng, H Kremer, H G Yntema, R J E Pennings, M Schraders
This study focuses on further characterization of the audiovestibular phenotype and on genotype-phenotype correlations of DFNB77, an autosomal recessive type of hearing impairment (HI). DFNB77 is associated with disease-causing variants in LOXHD1, and is genetically and phenotypically highly heterogeneous. Heterozygous deleterious missense variants in LOXHD1 have been associated with late-onset Fuchs corneal dystrophy (FCD). However, up to now screening for FCD of heterozygous carriers in DFNB77 families has not been reported...
April 19, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29669369/cataract-surgery-in-high-hyperopia
#12
Nicolas Philipp Waldmann, Nadine Gerber, Warren Hill, David Goldblum
BACKGROUND: Although cataract surgery is a well-established and standardised procedure, it can be demanding and associated with higher complication rates in high hyperopia. We present clinical data for highly hyperopic patients who underwent cataract surgery over a 12-year period (2005 - 2016) and at a single centre. PATIENTS AND METHODS: Out of a total of 11 434 cataract operations, 41 highly hyperopic eyes (SN60AT ≥ 31 dpt) were included for analysis...
April 2018: Klinische Monatsblätter Für Augenheilkunde
https://www.readbyqxmd.com/read/29649920/corneal-transplantation-trends-in-france-from-2004-to-2015-a-12-year-review
#13
Guillaume Bigan, Marc Puyraveau, Maher Saleh, Philippe Gain, Isabelle Martinache, Bernard Delbosc, Anne-Sophie Gauthier
PURPOSE: The aim of this study was to report the 12-year longitudinal trends in indication and corneal transplantation techniques in France from 2004 to 2015. RESULTS: The records of all corneal transplantations performed from 2004 to 2015 in France were retrospectively reviewed. The patient indications and types of transplant performed were analyzed. A total of 46,658 corneal transplantations were performed between 2004 and 2015, with 34,187 (73.3%) penetrating keratoplasty and 10,452 (22...
April 1, 2018: European Journal of Ophthalmology
https://www.readbyqxmd.com/read/29610297/intron-retention-induced-by-microsatellite-expansions-as-a-disease-biomarker
#14
Łukasz J Sznajder, James D Thomas, Ellie M Carrell, Tammy Reid, Karen N McFarland, John D Cleary, Ruan Oliveira, Curtis A Nutter, Kirti Bhatt, Krzysztof Sobczak, Tetsuo Ashizawa, Charles A Thornton, Laura P W Ranum, Maurice S Swanson
Expansions of simple sequence repeats, or microsatellites, have been linked to ∼30 neurological-neuromuscular diseases. While these expansions occur in coding and noncoding regions, microsatellite sequence and repeat length diversity is more prominent in introns with eight different trinucleotide to hexanucleotide repeats, causing hereditary diseases such as myotonic dystrophy type 2 (DM2), Fuchs endothelial corneal dystrophy (FECD), and C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia (C9-ALS/FTD)...
April 2, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29561350/sulfur-hexafluoride-20-versus-air-100-for-anterior-chamber-tamponade-in-dmek-a-meta-analysis
#15
Raquel Esteves Marques, Paulo Silva Guerra, David Cordeiro Sousa, Nuno Pinto Ferreira, Ana Inês Gonçalves, Ana Miguel Quintas, Walter Rodrigues
PURPOSE: To compare intracameral 20% sulfur hexafluoride (SF6) versus 100% air as tamponade for graft attachment in Descemet membrane endothelial keratoplasty (DMEK). METHODS: Using an electronic database search on MEDLINE and CENTRAL from inception to December 2017, we performed a literature review and meta-analysis including all comparative studies of SF6 at a 20% concentration (20% SF6) versus pure air (100% air) for anterior chamber tamponade in DMEK. The primary outcome was the rebubbling rate at the final observation...
June 2018: Cornea
https://www.readbyqxmd.com/read/29559831/dj-1-in-ocular-diseases-a-review
#16
REVIEW
Cong Liu, Xiufen Liu, Jing Qi, Om Prakash Pant, Cheng-Wei Lu, Jilong Hao
Protein deglycase DJ-1 (Parkinson disease protein 7) is a 20 kDa protein encoded by PARK7 gene. It is also known as a redox-sensitive chaperone and sensor that protect cells against oxidative stress-induced cell death in many human diseases. Though increasing evidence implicates that DJ-1 may also participate in ocular diseases, the overview of DJ-1 in ocular diseases remains elusive. In this review, we discuss the role as well as the underlying molecular mechanisms of DJ-1 in ocular diseases, including Fuchs endothelial corneal dystrophy (FECD), age-related macular degeneration (AMD), cataracts, and ocular neurodegenerative diseases, highlighting that DJ-1 may serve as a very striking therapeutic target for ocular diseases...
2018: International Journal of Medical Sciences
https://www.readbyqxmd.com/read/29557816/outcomes-of-hemi-descemet-membrane-endothelial-keratoplasty-for-fuchs-endothelial-corneal-dystrophy
#17
Rénuka S Birbal, Shugi Hsien, Vasiliki Zygoura, Jack S Parker, Lisanne Ham, Korine van Dijk, Isabel Dapena, Lamis Baydoun, Gerrit R J Melles
PURPOSE: To report the mid-term outcomes of hemi-Descemet membrane endothelial keratoplasty (hemi-DMEK) performed for Fuchs endothelial corneal dystrophy (FECD). METHODS: In this prospective, interventional case series, we evaluated clinical outcomes of 10 eyes from 10 patients who underwent hemi-DMEK for FECD. Main outcome measures were best-corrected visual acuity (BCVA), endothelial cell density (ECD), central pachymetry, and postoperative complications. RESULTS: At 1 year postoperatively, 7/7 eyes (excluding 2 eyes with low visual potential) reached a BCVA of ≥20/40 (≥0...
March 19, 2018: Cornea
https://www.readbyqxmd.com/read/29539291/injection-of-cultured-cells-with-a-rock-inhibitor-for-bullous-keratopathy
#18
Shigeru Kinoshita, Noriko Koizumi, Morio Ueno, Naoki Okumura, Kojiro Imai, Hiroshi Tanaka, Yuji Yamamoto, Takahiro Nakamura, Tsutomu Inatomi, John Bush, Munetoyo Toda, Michio Hagiya, Isao Yokota, Satoshi Teramukai, Chie Sotozono, Junji Hamuro
BACKGROUND: Corneal endothelial cell (CEC) disorders, such as Fuchs's endothelial corneal dystrophy, induce abnormal corneal hydration and result in corneal haziness and vision loss known as bullous keratopathy. We investigated whether injection of cultured human CECs supplemented with a rho-associated protein kinase (ROCK) inhibitor into the anterior chamber could increase CEC density. METHODS: We performed an uncontrolled, single-group study involving 11 persons who had received a diagnosis of bullous keratopathy and had no detectable CECs...
March 15, 2018: New England Journal of Medicine
https://www.readbyqxmd.com/read/29528002/descemet-membrane-endothelial-keratoplasty-outcomes-in-the-first-year-of-experience
#19
Dilek D Altınörs, Leyla Asena
OBJECTIVES: We aimed to report the clinical outcomes of Descemet membrane endothelial keratoplasty in our first year of experience. MATERIALS AND METHODS: Patients who underwent Descemet membrane endothelial keratoplasty at the Baskent University Faculty of Medicine, Department of Ophthalmology, between 2015 and 2016 were included in the study. Patient demographics, cause of endothelial dysfunction, best-corrected visual acuity, central corneal thickness, graft survival, follow-up duration, and intraoperative and postoperative complications were recorded...
March 2018: Experimental and Clinical Transplantation
https://www.readbyqxmd.com/read/29526280/antisense-therapy-for-a-common-corneal-dystrophy-ameliorates-tcf4-repeat-expansion-mediated-toxicity
#20
Christina Zarouchlioti, Beatriz Sanchez-Pintado, Nathaniel J Hafford Tear, Pontus Klein, Petra Liskova, Kalyan Dulla, Ma'ayan Semo, Anthony A Vugler, Kirithika Muthusamy, Lubica Dudakova, Hannah J Levis, Pavlina Skalicka, Pirro Hysi, Michael E Cheetham, Stephen J Tuft, Peter Adamson, Alison J Hardcastle, Alice E Davidson
Fuchs endothelial corneal dystrophy (FECD) is a common disease for which corneal transplantation is the only treatment option in advanced stages, and alternative treatment strategies are urgently required. Expansion (≥50 copies) of a non-coding trinucleotide repeat in TCF4 confers >76-fold risk for FECD in our large cohort of affected individuals. An FECD subject-derived corneal endothelial cell (CEC) model was developed to probe disease mechanism and investigate therapeutic approaches. The CEC model demonstrated that the repeat expansion leads to nuclear RNA foci, with the sequestration of splicing factor proteins (MBNL1 and MBNL2) to the foci and altered mRNA processing...
April 5, 2018: American Journal of Human Genetics
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