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Fuchs' corneal dystrophy

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
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
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...
March 1, 2018: American Journal of Human Genetics
Laura Macovei, Ioana Gobej
We report the case of a 69-year-old female with Fuchs endothelial dystrophy and posterior chamber in-the-bag intraocular lens, whom we treated with DMEK surgical technique. We encountered difficulties both during obtaining the endothelium from the young donor and during the intraocular unrolling and its application on the stroma. We evaluated both preoperative and postoperative the following parameters: visual acuity, slit lamp, and optical coherence tomography appearance of the cornea, corneal thickness, intraocular pressure, endothelial cell density...
October 2017: Romanian Journal of Ophthalmology
Oganes G Oganesyan, Vladimir V Neroev, Arthur A Grdikanyan, Vostan R Getadaryan
PURPOSE: To describe the feasibility of same-day, consecutive use of a single donor cornea in 5 patients with corneal pathology, who required anterior lamellar and endothelial keratoplasties. METHODS: Descemet membrane (DM) with endothelium was completely stripped from a single corneoscleral button and punched out from the endothelial side with a circular, standard punch. Using a custom-made punch for linear cutting of DM, we obtained 4 quarter-grafts (Q-graft)...
February 27, 2018: Cornea
Weng Hon Lee, Adrian Tey, Kevin Gales, Hardeep Singh Mudhar, Francisco C Figueiredo
AIM: To describe a cohort of patients with irreversible unilateral bullous keratopathy (BK) of undetermined aetiology. METHOD: Retrospective, single-centre case series in a tertiary corneal referral centre. RESULTS: Eleven consecutive patients (nine females; mean age 71.7 years) presented from 1999 to 2009 with acute onset unilateral visual loss. At presentation, the best-corrected visual acuity of the affected eyes was 6/9 or worse with mean central corneal thickness (CCT) of 684 (SD 66) μm...
February 26, 2018: British Journal of Ophthalmology
E Flockerzi, P Maier, D Böhringer, H Reinshagen, F Kruse, C Cursiefen, T Reinhard, G Geerling, N Torun, B Seitz
PURPOSE: The purpose of this retrospective panel study was to provide an overview of absolute numbers, trends in the types of and indications for corneal transplantation in Germany from 2001 to 2016. METHODS: A questionnaire about absolute numbers, types of transplantation and indications was sent to 111 ophthalmological departments in Germany out of which 94 (85%) provided their data. RESULTS: Since the year 2001, the number of corneal transplantations has increased by 1...
February 1, 2018: American Journal of Ophthalmology
Katrin Wacker, Jay W McLaren, Katrina M Kane, Sanjay V Patel
PURPOSE: Patients with Fuchs endothelial corneal dystrophy (FECD) often notice poor vision in the morning that improves as the day progresses. In this study, we determined changes in corneal optical properties associated with induced corneal edema. METHODS: Twenty-three phakic eyes (23 participants) with FECD (grades 1-6, modified Krachmer scale) and 8 normal eyes (8 participants) were examined by Scheimpflug photography. Central corneal thickness, high-order aberrations from anterior and posterior corneal surfaces, and backscatter from the anterior, mid-, and posterior cornea were determined from the Scheimpflug images...
March 2018: Cornea
Hiroyuki Yazu, Takefumi Yamaguchi, Naohiko Aketa, Kazunari Higa, Terumasa Suzuki, Yukari Yagi-Yaguchi, Yoshiyuki Satake, Takayuki Abe, Kazuo Tsubota, Jun Shimazaki
Purpose: To evaluate the association between endothelial cell density (ECD) after Descemet's stripping automated endothelial keratoplasty (DSAEK) and preoperative cytokine levels in the aqueous humor (AqH). Methods: This prospective consecutive case series included 97 consecutive patients who underwent DSAEK (64 eyes) or cataract surgery (33 eyes). AqH samples were collected at the beginning of each surgery. The levels of cytokines (IL-1α, IL-1β, IL-4, IL-6, IL-8, IL-10, IL-12p70, IL-13, IL-17A, IFN-α, IFN-γ, monocyte chemotactic protein [MCP]-1, E-selectin, P-selectin, and soluble intercellular adhesion molecule [sICAM]-1) in the AqH were measured by multiplex beads immunoassay...
February 1, 2018: Investigative Ophthalmology & Visual Science
Francisco Arnalich-Montiel, Sara Ortiz-Toquero, Clara Auladell, Ana Couceiro
PURPOSE: To assess intraobserver repeatability, intersession reproducibility, and agreement of swept-source Fourier-domain optical coherence tomography (SS-OCT) and the Scheimpflug camera in measuring corneal thickness in virgin and grafted eyes with Fuchs endothelial corneal dystrophy (FECD). METHODS: Thirty-six control eyes, 35 FECD eyes, 30 FECD with corneal edema eyes, 25 Descemet stripping automated endothelial keratoplasty (DSAEK) eyes, and 29 Descemet membrane endothelial keratoplasty (DMEK) eyes were included...
January 30, 2018: Cornea
Yu Qiang Soh, Jodhbir S Mehta
PURPOSE: Fuchs endothelial corneal dystrophy (FECD) is an acquired corneal endotheliopathy and is one of the most common indications for corneal transplantation surgery worldwide. Endothelial keratoplasty (EK) is the most popular form of corneal transplantation for FECD. In standard EK surgery, the patient's corneal endothelium and basement membrane [ie, Descemet membrane (DM)] are first removed, followed by transplantation of donor tissue that comprises allogenic corneal endothelial cells, DM, and corneal stroma of variable thickness...
April 2018: Cornea
Yu Qiang Soh, Gary Sl Peh, Jodhbir S Mehta
Fuchs' endothelial dystrophy (FED) is characterized by corneal endothelial dysfunction and guttate excrescences on the posterior corneal surface, and is the leading indication for corneal transplantation in developed countries. In severe cases, keratoplasty is considered as the gold standard of treatment. However, there have been significant developments in our understanding of FED over the past decade. Attempts have been made to treat this disease with regenerative therapy techniques such as primary descemetorhexis without an endothelial graft or with a tissue-engineering approach...
January 2018: Regenerative Medicine
M Matthaei, E Elsner, A Caramoy, W Adler, S Siebelmann, F Schaub, C Skevas, S Liakopoulos, B Bachmann, C Cursiefen, L M Heindl
No abstract text is available yet for this article.
January 19, 2018: Eye
Vasiliki Zygoura, Lamis Baydoun, Lisanne Ham, Vincent J A Bourgonje, Korine van Dijk, Jessica T Lie, Isabel Dapena, Silke Oellerich, Gerrit R J Melles
BACKGROUND/AIM: To assess the clinical outcome of the first series of Quarter-Descemet membrane endothelial keratoplasty (Quarter-DMEK), a potential hybrid technique between 'descemetorhexis only' and conventional, circular DMEK. METHODS: Prospective interventional case series at a tertiary referral centre. Twelve eyes of 12 patients with central Fuchs endothelial corneal dystrophy underwent Quarter-DMEK, that is, transplantation of one quadrant of a full-diameter DMEK graft, and were evaluated for best-corrected visual acuity (BCVA), endothelial cell density (ECD) and complications up to 6 months postoperatively...
January 17, 2018: British Journal of Ophthalmology
Naoki Okumura, Daiki Matsumoto, Yuya Fukui, Masataka Teramoto, Hirofumi Imai, Tetta Kurosawa, Tomoki Shimada, Friedrich Kruse, Ursula Schlötzer-Schrehardt, Shigeru Kinoshita, Noriko Koizumi
Corneal transparency is maintained by the corneal endothelium through its pump and barrier function. Severe corneal endothelial damage results in dysregulation of water flow and eventually causes corneal haziness and deterioration of visual function. In 2013, we initiated clinical research of cell-based therapy for treating corneal decompensation. In that study, we removed an 8-mm diameter section of damaged corneal endothelium without removing Descemet's membrane (the basement membrane of the corneal endothelium) and then injected cultured human corneal endothelial cells (CECs) into the anterior chamber...
2018: PloS One
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
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
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
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
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
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