keyword
MENU ▼
Read by QxMD icon Read
search

fuch's dystrophy

keyword
https://www.readbyqxmd.com/read/29677349/repeat-associated-non-atg-ran-translation-in-fuchs-endothelial-corneal-dystrophy
#1
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
#2
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
#3
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
#4
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/29661044/dmek-versus-dsaek-for-fuchs-endothelial-dystrophy-a-meta-analysis
#5
Raquel Esteves Marques, Paulo Silva Guerra, David Cordeiro Sousa, Ana Inês Gonçalves, Ana Miguel Quintas, Walter Rodrigues
PURPOSE: To compare the safety and efficacy profiles of Descemet membrane endothelial keratoplasty (DMEK) and Descemet stripping automated endothelial keratoplasty (DSAEK) in adult patients with Fuchs' endothelial dystrophy. METHODS: Electronic database search on MEDLINE and CENTRAL from inception to August 2017. We included all comparative studies of DMEK versus DSAEK in patients with diagnosed Fuchs' endothelial dystrophy. Studies assessing rescue procedures were excluded to minimize bias...
April 1, 2018: European Journal of Ophthalmology
https://www.readbyqxmd.com/read/29649920/corneal-transplantation-trends-in-france-from-2004-to-2015-a-12-year-review
#6
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
#7
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
#8
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...
March 20, 2018: Cornea
https://www.readbyqxmd.com/read/29559831/dj-1-in-ocular-diseases-a-review
#9
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
#10
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/29547408/quantitative-assessment-of-aqueous-flare-after-descemet-membrane-endothelial-keratoplasty-for-fuchs-endothelial-dystrophy
#11
Lamis Baydoun, Fook Chang Lam, Sontje Schaal, Shugi Hsien, Silke Oellerich, Korine van Dijk, Gerrit R J Melles
PURPOSE: To assess aqueous flare as a measure of subclinical inflammation after Descemet membrane endothelial keratoplasty (DMEK) for Fuchs endothelial dystrophy. METHODS: In this prospective cross-sectional and longitudinal case series at a tertiary referral center, 173 DMEK eyes of 169 patients and 19 age-matched healthy control eyes were included. Aqueous flare [photon count per millisecond (ph/ms)] was assessed by laser flare photometry at 1 day, 1 week, and 1 month after DMEK in group I (evaluation of postsurgical blood-aqueous barrier recovery; n = 25) and on average 28 (±19) months (range, 3-86 months) after DMEK in group II (evaluation of long-term inflammation; n = 148)...
March 15, 2018: Cornea
https://www.readbyqxmd.com/read/29539291/injection-of-cultured-cells-with-a-rock-inhibitor-for-bullous-keratopathy
#12
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
#13
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
#14
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
https://www.readbyqxmd.com/read/29516051/endothelial-keratoplasty-for-fuchs-dystrophy
#15
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
https://www.readbyqxmd.com/read/29489516/five-keratoplasties-from-one-donor-cornea
#16
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
https://www.readbyqxmd.com/read/29483081/progressive-idiopathic-unilateral-corneal-endothelial-failure-of-unknown-aetiology-in-phakic-eyes
#17
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
https://www.readbyqxmd.com/read/29410297/trends-in-corneal-transplantation-from-2001-to-2016-in-germany-a-report-of-the-dog-section-cornea-and-its-keratoplasty-registry
#18
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
https://www.readbyqxmd.com/read/29408827/corneal-optical-changes-associated-with-induced-edema-in-fuchs-endothelial-corneal-dystrophy
#19
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
https://www.readbyqxmd.com/read/29392310/preoperative-aqueous-cytokine-levels-are-associated-with-endothelial-cell-loss-after-descemet-s-stripping-automated-endothelial-keratoplasty
#20
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
keyword
keyword
66137
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"