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corneal dystrophies

Tobias Brockmann, Daniel Pilger, Claudia Brockmann, Anna-Karina B Maier, Eckart Bertelmann, Necip Torun
PURPOSE: To identify predictors for the best-corrected visual acuity (BCVA), central corneal thickness (CCT) and the endothelial cell density (ECD) after primary Descemet's membrane endothelial keratoplasty (DMEK). METHODS: In a prospective observational study 108 eyes with Fuchs' endothelial dystrophy underwent a primary DMEK. Preoperative data, histologic parameters from host's Descemet's membrane and follow-up data of the first eye were analyzed in regard to BCVA, CCT and ECD, 12 months after surgery...
October 19, 2018: Current Eye Research
Silvia Schrittenlocher, Björn Bachmann, Claus Cursiefen
PURPOSE: To assess the effect of donor tissue diameter in Descemet Membrane Endothelial Keratoplasty (DMEK) on postoperative endothelial cell density (ECD) mainly in Fuchs Endothelial Corneal Dystrophy (FECD) patients. METHODS: Retrospective review of 693 consecutive DMEK surgeries from the prospective Cologne DMEK database performed between 07/2011 and 07/2016 at the Department of Ophthalmology, University of Cologne. Eight- versus ten-millimetre large donor DMEK grafts of two different surgeons using identical surgical techniques were compared...
October 14, 2018: Acta Ophthalmologica
Ula V Jurkunas
The corneal endothelium (CE) is vital for maintaining the water balance and clarity of the cornea. The CE is a cell layer that is particularly susceptible to aging because of its postmitotic arrest, high metabolic activity involving pumping of ions, and lifelong exposure to ultraviolet light. Despite gradual age-related cell loss, a sufficient number of CE cells are preserved during the lifespan of an individual. However, in conditions such as Fuchs endothelial corneal dystrophy (FECD), permanent loss of CE cells leads to corneal edema and loss of vision requiring corneal transplantation...
November 2018: Cornea
Anli Shu, Gen Li, Hai Luo, Juan He, Xiaowen Hu, Jiayi Sun, Ying Qing, Linghan Gao, Juan Zhang, Chao Yang, Lin He, Chunling Wan
OBJECTIVE: To detect potential mutation in a large Chinese pedigree affected with congenital corneal dystrophy. METHODS: Two patients from the pedigree were subjected to whole exome sequencing to determine the candidate gene. Suspected mutation was verified in 13 additional members by directional Sanger sequencing. Ccorrelation between genotype and phenotype was explored. RESULTS: A missense mutation, c.1877A>C (p.His626Pro), was detected in exon 14 of the TGFBI gene in 8 patients from the pedigree, but not in five unaffected members and 100 unrelated healthy controls...
October 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Paolo Vinciguerra, Riccardo Vinciguerra, J Bradley Randleman, Ingrid Torres, Emanuela Morenghi, Fabrizio I Camesasca
PURPOSE: To report long-term outcomes of sequential customized therapeutic keratectomy for Reis-Bücklers' corneal dystrophy. METHODS: This was a retrospective review of 14 eyes of 8 patients with Reis-Bücklers' corneal dystrophy that underwent surgical peeling with a spatula of the epithelium and subepithelial membrane present in Reis-Bücklers' corneal dystrophy, with subsequent sequential customized therapeutic keratectomy featuring a multi-step approach with sequential, repeated customized excimer laser photoablations alternating with repeat intraoperative topographies to monitor and progressively reduce corneal irregularities...
October 1, 2018: Journal of Refractive Surgery
Jeroen van Rooij, Elsina H Lucas, Annette J Geerards, Lies Remeijer, Rene Wubbels
OBJECTIVE: Comparison of conventional Penetrating Keratoplasty (PKP), posterior mushroom PKP and Descemet's Stripping Automated Endothelial Keratoplasty (DSAEK) regarding overall graft survival of primary corneal transplants for Fuchs´ endothelial dystrophy (FED), best spectacle-corrected visual acuity (BSCVA) and astigmatism. METHODS: Single centre study using prospectively collected data from the national database for follow-up of corneal transplants. Main outcome parameters: 10 years graft survival, astigmatism at 24 months, pre- and post-operative BSCVA...
2018: PloS One
Nicholas S Reed, Jennifer A Deal, Matthew G Huddle, Joshua F Betz, Bethany E Bailey, Elyse J McGlumphy, Allen O Eghrari, S Amer Riazuddin, Frank R Lin, John D Gottsch
Purpose: Although Fuchs corneal dystrophy (FCD) is considered an eye disease, a small number of studies have identified genes related to both FCD and hearing loss. Whether FCD is related to hearing loss is unknown. Method: This is a case-control study comparing pure-tone audiometry hearing thresholds in 180 patients with FCD from a hospital-based ophthalmology clinic with 2,575 population-based controls from a nationally representative survey, the National Health and Nutrition Examination Survey (from cycles 2005-06 and 2009-10)...
October 2, 2018: Journal of Speech, Language, and Hearing Research: JSLHR
Liubov O Skorodumova, Alexandra V Belodedova, Olga P Antonova, Elena I Sharova, Tatiana A Akopian, Oksana V Selezneva, Elena S Kostryukova, Boris E Malyugin
Purpose: To assess the occurrence and diagnostic performance of nine single-nucleotide variants (SNVs) in the TCF4, SLC4A11, LOXHD1, and AGBL1 genes and the CTG18.1 trinucleotide repeat expansion in a Russian cohort of Fuchs' endothelial corneal dystrophy (FECD) patients. Methods: This retrospective case-control study included 100 patients diagnosed with FECD (cases) and 100 patients with cataracts (controls). Blood DNA was used to perform PCR and subsequent Sanger sequencing of rs613872 and rs17595731 in TCF4, c...
September 4, 2018: Investigative Ophthalmology & Visual Science
Gargi Gouranga Nanda, Malloji Vinay Kumar, Laxmipriya Pradhan, Biswajit Padhy, Satabdi Sundaray, Sujata Das, Debasmita Pankaj Alone
Fuchs' Endothelial Corneal Dystrophy (FECD) is a genetically complex disorder that affects individuals above 40 years of age; molecular pathogenesis of its associated genes is poorly understood. This study aims at assessing the association of flap endonuclease 1 (FEN1) polymorphisms, c.-69G>A (rs174538) and c.4150G>T (rs4246215) with FECD. Comet assay analysis reaffirmed that endogenous DNA damage was greater in FECD individuals. However, genetic analysis in 79 FECD patients and 234 unrelated control individuals prove that both the FEN1 polymorphisms, c...
2018: PloS One
Yunes Panahi, Ali Azimi, Mostafa Naderi, Khosrow Jadidi, Amirhossein Sahebkar
Keratoconus is a progressive bilateral corneal protrusion that leads to irregular astigmatism and impairment of vision. Keratoconus is an etiologically heterogeneous corneal dystrophy and both environmental and genetic factors play a role in its etiopathogenesis. In this analytical review, we have studied all the genes that are structurally associated with keratoconus and have tried to explain the function of each gene and its association with other eye disorders in a concise way. In addition, using gene set enrichment analysis, it was attempted to find the most important impaired metabolic pathways in keratoconus...
September 27, 2018: Journal of Cellular Biochemistry
Takashi Miyai
Fuchs endothelial corneal dystrophy (FECD) is a bilateral progressive corneal endothelial disease characterized by guttae, which present as partial Descemet membrane thickening, inducing corneal edema at the final stage. Oxidative stress has been reported to play an important role in the pathogenesis of FECD. The electron transport chain and oxidative phosphorylation (oxphos) system in mitochondria are the main sources of endogenous oxidative stress, arising from superoxide generation through premature electron leakage to oxygen...
September 24, 2018: Cornea
Mohit Parekh, Alessandro Ruzza, Abigail Kaye, Bernhard Steger, Stephen B Kaye, Vito Romano
Purpose: To report the management of an intraoperative complication during large (9.5 mm) ultra-thin Descemet Stripping Automated Endothelial Keratoplasty (UT-DSAEK) surgery in a patient with a large area of dysfunctional endothelium. Observations: A single case study of an 89 y/o male with a history of Fuchs corneal endothelial dystrophy is presented. The patient was listed for a large UT-DSAEK, but due to an intraoperative complication during graft preparation, an 8...
December 2018: American Journal of Ophthalmology Case Reports
Cerys J Evans, Lubica Dudakova, Pavlina Skalicka, Gabriela Mahelkova, Ales Horinek, Alison J Hardcastle, Stephen J Tuft, Petra Liskova
BACKGROUND: The purpose of this study was to identify the genetic cause and describe the clinical phenotype of Schnyder corneal dystrophy (SCD) in six unrelated probands. METHODS: We identified two white Czech, two white British and two South Asian families with a clinical diagnosis of SCD. Ophthalmic assessment included spectral domain optical coherence tomography (SD-OCT) of one individual with advanced disease, and SD-OCT and confocal microscopy of a child with early stages of disease...
September 17, 2018: BMC Ophthalmology
Kazutaka Kamiya, Masahide Takahashi, Akihito Igarashi, Nobuyuki Shoji
PURPOSE: To compare the rate of central island (CI) and visual acuity after phototherapeutic keratectomy (PTK) with and without the CI program. METHODS: This retrospective study comprised 147 eyes of 89 consecutive patients (mean age ± SD, 71.1 ± 9.6 years) undergoing PTK with and without the anti-CI program [photorefractive keratectomy (PRK) mode and PTK mode] using the VISX Star S4 excimer laser system (Johnson & Johnson Vision, Santa Ana, US) for treatment of band keratopathy (BK) or granular corneal dystrophy (GCD)...
September 14, 2018: Cornea
Marshall J Huang, Steven Kane, Deepinder K Dhaliwal
PURPOSE: To compare the visual outcomes and associated morbidity of patients with Fuchs endothelial corneal dystrophy who were treated with either Descemet membrane endothelial keratoplasty (DMEK) or descemetorhexis without endothelial keratoplasty (DWEK). METHODS: This is a retrospective comparative cohort study of 27 eyes with mild to moderate Fuchs dystrophy (with corneal guttae/edema limited to the central cornea with relatively clear periphery) that were treated at the University of Pittsburgh Medical Center from 2015 to 2017 with either DMEK (n = 15) or DWEK (n = 12)...
September 14, 2018: Cornea
Jayne S Weiss, Hans Ulrik Møller, Walter Lisch
No abstract text is available yet for this article.
September 11, 2018: American Journal of Ophthalmology
Marianne Fritz, Viviane Grewing, Daniel Böhringer, Thabo Lapp, Philip Maier, Thomas Reinhard, Katrin Wacker
PURPOSE: It is unclear which patients unexpectantly have a hyperopic refractive outcome after combined Descemet membrane endothelial keratoplasty and cataract surgery (triple DMEK). We assessed how corneal shape predicts hyperopia after triple DMEK. DESIGN: Retrospective cohort study. METHODS: Patients with Fuchs endothelial corneal dystrophy (FECD) with Scheimpflug exams before uncomplicated triple DMEK at a tertiary referral center were included...
September 6, 2018: American Journal of Ophthalmology
Shruti Aggarwal, Bernardo M Cavalcanti, Laura Regali, Andrea Cruzat, Monique Trinidad, Candice Williams, Ula V Jurkunas, Pedram Hamrah
PURPOSE: To evaluate corneal nerve and immune cell alterations in Fuchs' endothelial corneal dystrophy (FECD) and pseudophakic bullous keratopathy (PBK) by laser in vivo confocal microscopy (IVCM) as correlated to sensation and endothelial cell loss. DESIGN: Prospective, cross-sectional, controlled study. METHODS: 33 eyes with FECD were compared to 13 eyes with PBK and 17 normal age-matched control eyes at a tertiary referral center. FECD was classified into early (without edema) and late stage (with edema)...
September 5, 2018: American Journal of Ophthalmology
I Chehaibou, C Georgeon, L Laroche, V Borderie, N Bouheraoua
No abstract text is available yet for this article.
September 2018: Journal Français D'ophtalmologie
Eleftherios Loukovitis, Konstantinos Sfakianakis, Panagiota Syrmakesi, Eleni Tsotridou, Myrsini Orfanidou, Dimitra Rafailia Bakaloudi, Maria Stoila, Athina Kozei, Spyridon Koronis, Zachos Zachariadis, Paris Tranos, Nikos Kozeis, Miltos Balidis, Zisis Gatzioufas, Aliki Fiska, George Anogeianakis
INTRODUCTION: Keratoconus (KC) is a complex, genetically heterogeneous, multifactorial degenerative disorder that is accompanied by corneal ectasia which usually progresses asymmetrically. With an incidence of approximately 1 per 2000 and 2 cases per 100,000 population presenting annually, KC follows an autosomal recessive or dominant pattern of inheritance and is, apparently, associated with genes that interact with environmental, genetic, and/or other factors. This is an important consideration in refractive surgery in the case of familial KC, given the association of KC with other genetic disorders and the imbalance between dizygotic twins...
September 6, 2018: Ophthalmology and Therapy
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