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Corneal dystrophy

Jury Kim, Dong-Beom Ji, Naoaki Takiyama, Jaehyun Bae, Min-Su Kim
OBJECTIVE: To describe the outcome of corneal collagen cross-linking (CXL) combined with superficial keratectomy (SK) as treatment for corneal edema due to corneal endothelial dystrophy (CED) in dogs. ANIMALS STUDIED: Four eyes of four dogs (3 Shih Tzus and 1 English Cocker Spaniel) with corneal edema due to CED were treated with SK and CXL. Two were males, and two were females. PROCEDURE: Depending on corneal thickness, 500-700 μm of edematous cornea was removed by SK...
August 15, 2018: Veterinary Ophthalmology
Katrin Wacker, Keith H Baratz, William M Bourne, Sanjay V Patel
PURPOSE: Measuring patient-reported visual disability in Fuchs' endothelial corneal dystrophy (FECD) may be helpful in determining when to intervene and for understanding the outcomes of intervention. In this study, we aimed to validate a new patient-reported visual disability questionnaire, the Visual Function and Corneal Health Status (V-FUCHS) instrument, in FECD before and after endothelial keratoplasty (EK). DESIGN: Cross-sectional study with instrument readministration at 6 weeks...
August 10, 2018: Ophthalmology
Mark A Terry, Anthony J Aldave, Loretta B Szczotka-Flynn, Wendi Liang, Allison R Ayala, Maureen G Maguire, Christopher Croasdale, Yassine J Daoud, Steven P Dunn, Caroline K Hoover, Marian S Macsai, Thomas F Mauger, Sudeep Pramanik, George Od Rosenwasser, Jennifer Rose-Nussbaumer, R Doyle Stulting, Alan Sugar, Elmer Y Tu, David D Verdier, Sonia H Yoo, Jonathan H Lass
PURPOSE: To associate donor, recipient, and operative factors with graft success 3 years after Descemet stripping automated endothelial keratoplasty (DSAEK) in the Cornea Preservation Time Study (CPTS). DESIGN: Cohort study within a multi-center, double-masked, randomized clinical trial. PARTICIPANTS: 1,090 individuals (1,330 study eyes), median age 70 years, undergoing DSAEK for Fuchs endothelial corneal dystrophy (94% of eyes) or pseudophakic/aphakic corneal edema (PACE, 6% of eyes)...
August 8, 2018: Ophthalmology
Yong Wei Wei Dayna, Chai Hui-Chen Charmaine, Shen Liang, Ray Manotosh, Tan Wee Tien Anna
PURPOSE: To compare the outcome in patients with Fuchs Endothelial Dystrophy (FED) who underwent standard phacoemulsification versus Femtosecond Laser-Assisted Surgery (FLACS) in the treatment of visually significant cataracts. DESIGN: Retrospective, comparative, interventional case series METHODS PATIENT OR STUDY POPULATION: : Between April 2013 and December 2016, 140 FED eyes with cataracts of all densities were included. 72 eyes underwent phacoemulsification and 68 eyes underwent FLACS...
August 8, 2018: American Journal of Ophthalmology
Honghui Duan, Libin Zheng, Haijian Wu, Dejian Xu, Tao Guan
OBJECTIVE: To explore the clinical features and mutation of TGFBI gene in a Chinese pedigree affected with lattice corneal dystrophy (LCD). METHODS: Genomic DNA was extracted from 35 members including 11 patients from the pedigree. The 17 exons and splicing region of introns of the TGFBI gene were amplified by PCR. The products were directly sequenced and compared with GenBank database to identify potential mutation. Bioinformatic analysis was carried out to predict the effect of mutation on proteins...
August 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Joanna S Saade, Chao Xing, Xin Gong, Zhengyang Zhou, V Vinod Mootha
Purpose: Fuchs' endothelial corneal dystrophy (FECD) caused by the CTG triplet repeat expansion in the TCF4 gene (CTG18.1 locus) is the most common repeat expansion disorder. Intergenerational instability of expanded repeats and clinical anticipation are hallmarks of other repeat expansion disorders. In this study, we examine stability of triplet repeat allele length and FECD disease severity in parent-child transmission of the expanded CTG18.1 allele. Methods: We studied 44 parent-child transmissions of the mutant expanded CTG18...
August 1, 2018: Investigative Ophthalmology & Visual Science
Majid Moshirfar, Yanning Ding, Tirth J Shah
Fuchs' endothelial corneal dystrophy is a hereditary and progressive vision-threatening disease with a high prevalence in our adult population. In the past two decades, endothelial transplantation has dramatically changed the way we treat these patients. Back then, our limited surgical techniques often resulted in less than ideal outcomes. It was unimaginable for our patients to achieve near perfect visual acuity in such a short span of time. Over the years, we have tenaciously refined our surgical techniques to vastly improve patient outcomes, and with the recent advent of Rho-kinase inhibitors, we may even consider delivering a simple injection to our patients in the future...
July 2018: Journal of Ophthalmic & Vision Research
China Nagano, Kandai Nozu, Tomohiko Yamamura, Shogo Minamikawa, Junya Fujimura, Nana Sakakibara, Keita Nakanishi, Tomoko Horinouchi, Yoichi Iwafuchi, Sentaro Kusuhara, Wataru Matsumiya, Norishige Yoshikawa, Kazumoto Iijima
Transforming growth factor beta-induced (TGFBI)-associated corneal dystrophies are a group of inherited progressive corneal diseases. One of these TGFBI-associated corneal dystrophies is Avellino corneal dystrophy, an autosomal dominant corneal dystrophy characterized by multiple asymmetric stromal opacities that potentially impair vision. Recently, a case with corneal dystrophy complicated by nephropathy possessing a pathogenic variant of the TGFBI gene was reported for the first time. Here, we report the second case with the same condition and the same mutation in the TGFBI gene...
August 7, 2018: CEN Case Reports
Anna Sarosiak, Monika Udziela, Aneta Ścieżyńska, Dominika Oziębło, Anna Wawrzynowska, Jacek P Szaflik, Monika Ołdak
PURPOSE: Schnyder corneal dystrophy (SCD) is a rare inherited disease that leads to gradual vision loss by the deposition of lipids in the corneal stroma. The aim of this study is to report a novel pathogenic variant in the UBIAD1 gene and present clinical and molecular findings in Polish patients with SCD. METHODS: Individuals (n = 37) originating from four Polish SCD families were subjected for a complete ophthalmological check-up and genetic testing. Corneal changes were visualized by slit-lamp examination, anterior segment optical coherent tomography (AS-OCT), and in vivo confocal microscopy (IVCM)...
August 6, 2018: Graefe's Archive for Clinical and Experimental Ophthalmology
Konstantinos Droutsas, Georgios Bagikos, Dimitrios Miltsakakis, Ilias Georgalas, Apostolos Lazaridis, Klio Chatzistefanou, Marilita M Moschos, Chryssanthi Koutsandrea, Georgios Kymionis
Introduction: During the past decade, novel techniques of corneal transplantation allowing faster and better restoration of vision have emerged. The present cohort study describes a shift of indications and techniques that has occurred in the field of corneal transplantation over a 17-year period in Greece. Methods: All patients undergoing keratoplasty between January 1999 and December 2015 at an academic tertiary referral center in Athens, Greece, were retrospectively reviewed...
2018: Journal of Ophthalmology
Preeya K Gupta, Owen J Drinkwater, Keith W VanDusen, Ashley R Brissette, Christopher E Starr
PURPOSE: To report the prevalence of ocular surface dysfunction in patients presenting for cataract surgery evaluation. SETTING: Duke University Eye Center and Weill Cornell Ophthalmology, single-physician practices. DESIGN: Prospective case series. METHODS: Consecutive patients presenting for cataract surgery evaluation were identified. Patient information including demographics, medical history, slitlamp findings, tear osmolarity, and tear matrix metalloproteinase-9 (MMP-9) levels were recorded...
August 2, 2018: Journal of Cataract and Refractive Surgery
Janine Lenk, Joseph Porrmann, Martin Smitka, Ines Eger, Evelin Schröck, Karl Hackmann, Robert Herber, Frederik Raiskup, Andreas Tzschach
Posterior amorphous corneal dystrophy (PACD) (OMIM 612868) is a rare autosomal dominant disorder characterized by partial or complete posterior lamellar corneal opacification, decreased corneal thickness and flattening of the corneal curvature. PACD is associated with heterozygous deletions in chromosome band 12q21.33 harboring DCN, KERA, LUM, and EPYC which encode small leucine-rich proteoglycans. We report on a 7-year-old male patient with PACD who had an interstitial deletion of 1.3 Mb in 12q21.33. His mother carried a balanced insertional translocation involving this 12q21...
July 30, 2018: Ophthalmic Genetics
Virgilio Galvis, Alejandro Tello, Andrea N Laiton, Stephany L L Salcedo
PURPOSE: To describe the indications and techniques of corneal grafting in a tertiary institution in a middle-sized city in Colombia. METHODS: A retrospective review of surgical reports and medical records of patients undergoing keratoplasty from January 2012 to December of 2016. RESULTS: A total of 346 eyes from 316 patients were included. The first three indications for keratoplasty were: bullous keratopathy (BK) with 46.2% of the cases, active infectious keratitis (22...
July 25, 2018: International Ophthalmology
Albert Y Cheung, Deepali Y Chachare, Medi Eslani, Julia Schneider, Michael L Nordlund
PURPOSE: To describe the tomographic changes in eyes with a hyperopic shift after triple Descemet membrane endothelial keratoplasty (DMEK). SETTING: Private cornea practice, Blue Ash, Ohio, USA. DESIGN: Retrospective case series. METHODS: Patients who had previous triple DMEK with preoperative and postoperative Scheimpflug corneal tomography (Pentacam) measurements and corresponding manifest refraction measurements were reviewed...
June 2018: Journal of Cataract and Refractive Surgery
Sunita Chaurasia, Muralidhar Ramappa, Somasheila Murthy, Prashant Garg
Macular corneal dystrophy is autosomal recessive dystrophy characterized by deposits of abnormal glycosaminoglycans in stromal lamellae and within endothelial cells. Deep anterior lamellar keratoplasty is successful in the management of this dystrophy. We herein describe three cases of primary graft failure after uneventful big bubble deep anterior lamellar keratoplasty for macular corneal dystrophy.
August 2018: Indian Journal of Ophthalmology
B Benito-Pascual, P Arriola-Villalobos, D Díaz-Valle, J M Benítez Del Castillo-Sánchez
INTRODUCTION: Polychromatic corneal dystrophy is an unusual pre-descemet dystrophy, about which there are very few publications. The findings are presented in a case series of four patients with polychromatic corneal dystrophy, using a slit lamp, specular biomicroscopy, and confocal microcospy. CLINICAL CASES: Four women, between 36 and 72 year-old, with the diagnosis of polychromatic corneal dystrophy in routine reviews. None reported visual symptoms or ocular history of interest...
July 17, 2018: Archivos de la Sociedad Española de Oftalmología
Nelson S Winkler, Margherita Milone, Jennifer M Martinez-Thompson, Harish Raja, Ross A Aleff, Sanjay V Patel, Michael P Fautsch, Eric D Wieben, Keith H Baratz
Purpose: RNA toxicity from CTG trinucleotide repeat (TNR) expansion within noncoding DNA of the transcription factor 4 (TCF4) and DM1 protein kinase (DMPK) genes has been described in Fuchs' endothelial corneal dystrophy (FECD) and myotonic dystrophy, type 1 (DM1), respectively. We prospectively evaluated DM1 patients and their families for phenotypic FECD and report the analysis of CTG expansion in the TCF4 gene and DMPK expression in corneal endothelium. Methods: FECD grade was evaluated by slit lamp biomicroscopy in 26 participants from 14 families with DM1...
June 1, 2018: Investigative Ophthalmology & Visual Science
Guannan Li, Xin Wang, Xiuwei Wang, Zhen Guan, Jin Guo, Fang Wang, Jianzhao Zhang, Bo Niu, Ting Zhang, Jianhua Wang, Jian Yang
BACKGROUND DNA Base Excision Repair Gene-DNA LigaseIII (LIG3) is an important repair gene in the repair pathway and plays an important role in maintaining the integrity of mitochondria. Rs1052536 and rs3135967 polymorphisms of the gene are associated with lung cancer, keratoconus, and Fuchs endothelial corneal dystrophy. There is no previously published report on the relationship between the polymorphisms and neural tube defects (NTDs). MATERIAL AND METHODS Mass ARRAY iPLEX was used to determine the distribution of the polymorphisms in the case group of 108 NTD pregnant women and a control group of 233 normal healthy pregnant women to examine the relevance of their polymorphisms and NTD occurrence...
July 19, 2018: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
Caterina Sarnicola, Asim V Farooq, Kathryn Colby
Fuchs endothelial corneal dystrophy (FECD) is the most common indication for corneal transplantation in the United States, accounting 36% of the almost 47,000 transplants performed in 2016. Although the surgical management of FECD has undergone a revolution over the past 20 years, its pathogenesis remains elusive, with multiple putative disease pathways and an ever increasing number of candidate genes thought to play a role. This review will summarize the recent advancements in our understanding of the biology of FECD, including potential parallels with neurodegenerative disease like amyotrophic lateral sclerosis and will highlight prospects for future treatment advances...
July 12, 2018: Eye & Contact Lens
Gaëtan Le-Bel, Claude J Giasson, Alexandre Deschambeault, Patrick Carrier, Lucie Germain, Sylvain L Guérin
Based on the use of tissue-cultured human corneal endothelial cells (HCECs), cell therapy is a very promising avenue in the treatment of corneal endothelial pathologies such as Fuchs' dystrophy, and post-surgical corneal edema. However, once in culture, HCECs rapidly lose their phenotypic and physiological characteristics, and are therefore unsuitable for the reconstruction of a functional endothelial monolayer. Expression of NFI, a transcription factor that can either function as an activator or a repressor of gene transcription, has never been examined in endothelial cells...
July 9, 2018: Experimental Eye Research
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