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Endothelial corneal dystrophy

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https://www.readbyqxmd.com/read/29327391/molecular-phenotype-of-slc4a11-missense-mutants-setting-the-stage-for-personalized-medicine-in-corneal-dystrophies
#1
Kumari Alka, Joseph R Casey
SLC4A11 mutations cause cases of congenital hereditary endothelial dystrophy (CHED), Harboyan syndrome (HS), and Fuchs endothelial corneal dystrophy (FECD). Defective water reabsorption from corneal stroma by corneal endothelial cells (CECs) leads to these corneal dystrophies. SLC4A11, in the CEC basolateral membrane facilitates transmembrane movement of H2 O, NH3 and H+ -equivalents. Some SLC4A11 disease mutants have impaired folding, leading to a failure to move to the cell surface, which in some cases can be corrected by the drug, Glafenine...
January 11, 2018: Human Mutation
https://www.readbyqxmd.com/read/29325388/-the-research-advances-of-microrna-184-and-related-ocular-diseases
#2
R R Zong, Y P Zhou, Z G Liu
microRNA-184 (miR-184) is a small, non-coding, endogenic RNA molecule of 22 nucleotides in length. It is a highly conserved sequence throughout many different species. Multiple studies have demonstrated that miR-184 is an important factor in regulating gene expression at the post-transcriptional level. miR-184 plays vital roles in many biological processes, including development and differentiation in many tissues and organs. Meanwhile, the research on the physiological and pathological role of miR-184 in eyes draws more and more attention lately...
December 11, 2017: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://www.readbyqxmd.com/read/29325021/oligonucleotides-targeting-tcf4-triplet-repeat-expansion-inhibit-rna-foci-and-mis-splicing-in-fuchs-dystrophy
#3
Jiaxin Hu, Ziye Rong, Xin Gong, Zhengyang Zhou, Vivek K Sharma, Chao Xing, Jonathan K Watts, David R Corey, V Vinod Mootha
Fuchs' endothelial corneal dystrophy (FECD) is the most common repeat expansion disorder. FECD impacts 4% of United States population and is the leading indication for corneal transplantation. Most cases are caused by an expanded intronic CUG tract in the TCF4 gene that forms nuclear foci, sequesters splicing factors, and impairs splicing. We investigated the sense and antisense RNA landscape at the FECD gene and find that the sense expanded repeat transcript is the predominant species in patient corneas. In patient tissue, sense foci number were negatively correlated with age and showed no correlation with sex...
January 8, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29319599/long-term-outcome-after-penetrating-keratoplasty-in-a-pedigree-with-the-g177e-mutation-in-the-ubiad1-gene-for-schnyder-corneal-dystrophy
#4
Koji Kitazawa, Koichi Wakimasu, Kanae Kayukawa, Manabu Sugimoto, Junko Nakai, Jayne S Weiss, Morio Ueno, Chie Sotozono, Shigeru Kinoshita
PURPOSE: To investigate the long-term surgical outcome after penetrating keratoplasty in 5 patients from 1 pedigree with Schnyder corneal dystrophy (SCD), resulting from the same UbiA prenyltransferase domain containing 1 (UBIAD1) mutation. METHODS: This retrospective study involved 6 eyes of 5 patients who underwent penetrating keratoplasty for treatment of SCD. Postoperative surgical outcome measures included the analysis of best-corrected visual acuity (BCVA), corneal endothelial cell density, and the rates of corneal graft rejection and disease recurrence...
January 9, 2018: Cornea
https://www.readbyqxmd.com/read/29260073/endothelial-keratoplasty-for-posterior-polymorphous-corneal-dystrophy-in-a-4-month-old-infant
#5
M Hermina Strungaru, Asim Ali, David Rootman, Kamiar Mireskandari
Purpose: To report a case of endothelial keratoplasties (EKs) performed in a 4 month old with a posterior polymorphous corneal dystrophy. Observations: A 4 month old infant underwent Descemet membrane endothelial keratoplasty (DMEK) for posterior polymorphous corneal dystrophy. The graft was found to be dislocated on day 5 post-operatively and an attempt to unfold the DMEK scroll and re-bubble was not successful. The patient was then treated successfully with bilateral Descemet stripping automated endothelial keratoplasty (DSAEK)...
September 2017: American Journal of Ophthalmology Case Reports
https://www.readbyqxmd.com/read/29242495/the-evolution-of-corneal-transplantation
#6
Tobias Röck, Johanna Landenberger, Matthias Bramkamp, Karl Ulrich Bartz-Schmidt, Daniel Röck
BACKGROUND The aim of this study was to investigate the evolution of surgical methods in and leading indications for corneal transplantation from 2005 to 2016. MATERIAL AND METHODS Data from the corneal graft waiting list and from all keratoplasties carried out between 2005 and 2016 at the University Eye Hospital Tübingen were retrospectively evaluated. RESULTS A total of 1259 keratoplasties were performed between 2005 and 2016 at the University Eye Hospital Tübingen. The most common surgical indications for corneal transplantation were Fuchs endothelial corneal dystrophy (45...
December 15, 2017: Annals of Transplantation: Quarterly of the Polish Transplantation Society
https://www.readbyqxmd.com/read/29234234/mini-descemet-membrane-stripping-m-dmes-in-patients-with-fuchs-endothelial-dystrophy-a-new-method
#7
George D Kymionis, Dimitrios A Liakopoulos, Michael A Grentzelos, Irini Naoumidi, Georgios A Kontadakis, Konstantinos I Tsoulnaras, Myrsini K Petrelli
We present two cases with focal corneal edema due to Fuchs' endothelial dystrophy that were successfully treated with mini Descemet membrane stripping (m-DMES) (diameter of 3-4 mm; at the area of preexisting focal corneal edema) without endothelial replacement during cataract surgery. Specular microscopy demonstrated Fuchs' endothelial dystrophy and histopathologic evaluation confirmed the diagnosis. Anterior segment optical coherence tomography and confocal microscopy were used for the evaluation of the corneal tissue recovery course after the surgical procedure...
October 2017: Saudi Journal of Ophthalmology: Official Journal of the Saudi Ophthalmological Society
https://www.readbyqxmd.com/read/29223239/phacoemulsification-with-intraocular-lens-implantation-after-previous-descemetorhexis-without-endothelial-keratoplasty
#8
Aaron R Kaufman, Ricardo M Nosé, Yifan Lu, Roberto Pineda
A 58-year-old woman with bilateral Fuchs endothelial corneal dystrophy presented with predominantly central guttata in the left eye causing visually significant stromal edema. A 4.0 mm descemetorhexis without endothelial keratoplasty was performed. At the 6-week follow-up, the central cornea had cleared completely and the central endothelial cell density (ECD) was 541 cells/mm2. The central corneal clearing remained stable for 2 years after the procedure; however, vision declined because of a visually significant cataract in the left eye...
November 2017: Journal of Cataract and Refractive Surgery
https://www.readbyqxmd.com/read/29213190/smartphone-based-imaging-of-the-corneal-endothelium-at-sub-cellular-resolution
#9
Devrim Toslak, Damber Thapa, Muhammet Kazim Erol, Yanjun Chen, Xincheng Yao
This aim of this study was to test the feasibility of smartphone-based specular microscopy of the corneal endothelium at a sub-cellular resolution. Quantitative examination of endothelial cells is essential for evaluating corneal disease such as determining a diagnosis, monitoring progression and assessing treatment. Smartphone-based technology promises a new opportunity to develop affordable devices to foster quantitative examination of endothelial cells in rural and underserved areas. In our study, we incorporated an iPhone 6 and a slit lamp to demonstrate the feasibility of smartphone-based microscopy of the corneal endothelium at a sub-cellular resolution...
2017: Journal of Modern Optics
https://www.readbyqxmd.com/read/29209447/nrf2-a-potential-therapeutic-target-against-oxidative-stress-in-corneal-diseases
#10
REVIEW
Xiu-Fen Liu, Dan-Dan Zhou, Tian Xie, Tayyab Hamid Malik, Cheng-Bo Lu, Hai-Jun Li, Fan Wang, Chang Shu, Cong Liu, Cheng-Wei Lu, Ji-Long Hao
Corneal diseases are one of the major causes of blindness worldwide. Conservative medical agents, which may prevent sight-threatening corneal disease progression, are urgently desired. Numerous evidences have revealed the involvement of oxidative stress in various corneal diseases, such as corneal wound healing and Fuchs endothelial corneal dystrophy (FECD). Nuclear factor (erythroid-derived 2)-like 2 (Nrf2)/Kelch-like erythroid-cell-derived protein with CNC homology- (ECH-) associated protein 1 (Keap1)/antioxidant response element (ARE) signaling is well known as one of the main antioxidative defense systems...
2017: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/29136408/fuchs-endothelial-and-myotonic-dystrophies-corneal-dystrophy-in-myotonic-patients
#11
Maddalena De Bernardo, Nicola Rosa
No abstract text is available yet for this article.
November 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29132691/-practical-assessment-of-dsaek-in-the-management-of-endothelial-decompensation-following-penetrating-keratoplasty
#12
E Neiter, C Goetz, F Tortuyaux, A Ehrhardt, N Houmad, J-M Perone
PURPOSE: To report our anatomical and functional results as well as possible complications of the first six Descemet's stripping endothelial keratoplasties (DSAEK) performed in our department for endothelial decompensation after penetrating keratoplasty (PK) METHODS: This was a retrospective and observational monocentric study of six patients with DSAEK after prior PK between January 2015 and July 2016. The data collected were: demographic characteristics (age, sex), ophthalmological comorbidities, initial indication for PK, delay between PK and DSAEK...
November 11, 2017: Journal Français D'ophtalmologie
https://www.readbyqxmd.com/read/29127432/corneal-endothelial-cell-loss-3-years-after-successful-descemet-stripping-automated-endothelial-keratoplasty-in-the-cornea-preservation-time-study-a-randomized-clinical-trial
#13
Jonathan Lass, Beth Ann Benetz, David D Verdier, Loretta B Szczotka-Flynn, Allison R Ayala, Wendi Liang, Anthony J Aldave, Steven P Dunn, Tryone McCall, Shahzad I Mian, Lisa C Navarro, Sanjay V Patel, Sudeep Pramanik, George O Rosenwasser, Kevin W Ross, Mark A Terry, Craig Kollman, Robin L Gal, Roy W Beck
Importance: Demonstrating that endothelial cell loss following Descemet stripping automated endothelial keratoplasty (DSAEK) is independent of donor cornea preservation time (PT) could increase the pool of corneal tissue available for keratoplasty. Objective: To determine whether endothelial cell loss 3 years after successful DSAEK is related to PT. Design, Setting, and Participants: A multicenter, double-masked, randomized clinical trial included 40 clinical sites (70 surgeons) in the United States, with donor corneas provided by 23 US eye banks...
December 1, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/29127431/effect-of-cornea-preservation-time-on-success-of-descemet-stripping-automated-endothelial-keratoplasty-a-randomized-clinical-trial
#14
George O Rosenwasser, Loretta B Szczotka-Flynn, Allison R Ayala, Wendi Liang, Anthony J Aldave, Steven P Dunn, Tyrone McCall, Lisa C Navarro, Sudeep Pramanik, Kevin W Ross, R Doyle Stulting, Mark A Terry, Elmer Y Tu, David D Verdier, Craig Kollman, Robin L Gal, Roy W Beck, Jonathan H Lass
Importance: Demonstrating that success of Descemet stripping automated endothelial keratoplasty is similar across donor cornea preservation times (PTs) could increase the donor pool. Objective: To determine whether the 3-year rate of graft success using corneal donor tissue preserved 8 to 14 days is noninferior to that of donor tissue preserved 7 days or less. Design, Setting, and Participants: A multicenter, double-masked, randomized noninferiority clinical trial was conducted from April 16, 2012, to June 5, 2017, at 40 clinical sites (70 surgeons) in the United States, with donor corneas provided by 23 US eye banks...
December 1, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/29120897/corneal-endothelial-and-myotonic-dystrophy
#15
Maddalena De Bernardo, Nicola Rosa
No abstract text is available yet for this article.
November 8, 2017: Cornea
https://www.readbyqxmd.com/read/29120722/recurrent-endothelial-rejection-after%C3%A2-dsaek-and-dmek-causing-corneal-perforation-in-a-patient-with-history-of%C3%A2-fuchs%C3%A2-endothelial-dystrophy-october-consultation-1
#16
Majid Moshirfar
No abstract text is available yet for this article.
October 2017: Journal of Cataract and Refractive Surgery
https://www.readbyqxmd.com/read/29077583/phenotypic-characterization-of-corneal-endothelial-dystrophy-in-german-shorthaired-and-wirehaired-pointers-using-in-vivo-advanced-corneal-imaging-and-histopathology
#17
Olivia R Shull, Christopher M Reilly, Lola B Davis, Christopher J Murphy, Sara M Thomasy
PURPOSE: To evaluate corneal morphology using ultrasonic pachymetry (USP), Fourier-domain optical coherence tomography (FD-OCT), and in vivo confocal microscopy (IVCM) in 2 related canine breeds-German shorthaired pointers (GSHPs) and German wirehaired pointers (GWHPs)-with and without corneal endothelial dystrophy (CED). This condition is characterized by premature endothelial cell degeneration leading to concomitant corneal edema and is similar to Fuchs endothelial corneal dystrophy...
October 25, 2017: Cornea
https://www.readbyqxmd.com/read/29056323/impeding-transcription-of-expanded-microsatellite-repeats-by-deactivated-cas9
#18
Belinda S Pinto, Tanvi Saxena, Ruan Oliveira, Héctor R Méndez-Gómez, John D Cleary, Lance T Denes, Ona McConnell, Juan Arboleda, Guangbin Xia, Maurice S Swanson, Eric T Wang
Transcription of expanded microsatellite repeats is associated with multiple human diseases, including myotonic dystrophy, Fuchs endothelial corneal dystrophy, and C9orf72-ALS/FTD. Reducing production of RNA and proteins arising from these expanded loci holds therapeutic benefit. Here, we tested the hypothesis that deactivated Cas9 enzyme impedes transcription across expanded microsatellites. We observed a repeat length-, PAM-, and strand-dependent reduction of repeat-containing RNAs upon targeting dCas9 directly to repeat sequences; targeting the non-template strand was more effective...
November 2, 2017: Molecular Cell
https://www.readbyqxmd.com/read/29053562/predictive-factors-for-corneal-clearance-after-descemetorhexis-without-endothelial-keratoplasty
#19
Emma Davies, Ula Jurkunas, Roberto Pineda
PURPOSE: To study preoperative factors that possibly contribute to corneal clearance after Descemetorhexis without endothelial keratoplasty (DWEK) and to determine the most successful surgical technique for the procedure. METHODS: Retrospective chart review of 17 eyes of 13 patients with Fuchs corneal endothelial dystrophy that underwent central 4-mm DWEK. RESULTS: Baseline age, pachymetry, and endothelial cell count were not statistically significantly different between eyes that cleared 0 to 2 months, 3 to 5 months, 6 to 8 months, or that failed to clear...
October 17, 2017: Cornea
https://www.readbyqxmd.com/read/29046608/elucidating-the-molecular-basis-of-ppcd-effects-of-decreased-zeb1-expression-on-corneal-endothelial-cell-function
#20
Marina Zakharevich, Jaffer M Kattan, Judy L Chen, Benjamin R Lin, Aleck E Cervantes, Doug D Chung, Ricardo F Frausto, Anthony J Aldave
PURPOSE: To investigate the functional role that the zinc e-box binding homeobox 1 (ZEB1) gene, which underlies the genetic basis of posterior polymorphous corneal dystrophy 3 (PPCD3), plays in corneal endothelial cell proliferation, apoptosis, migration, and barrier function. METHODS: A human corneal endothelial cell line (HCEnC-21T) was transfected with siRNA targeting ZEB1 mRNA. Cell proliferation, apoptosis, migration, and barrier assays were performed: Cell proliferation was assessed with cell counting using a hemocytometer; cell apoptosis, induced by either ultraviolet C (UVC) radiation or doxorubicin treatment, was quantified by measuring cleaved caspase 3 (cCASP3) protein levels; and cell migration and barrier function were monitored with electric cell-substrate impedance sensing (ECIS)...
2017: Molecular Vision
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