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corneal dystrophies

Tsubasa Nishino, Akira Kobayashi, Natsuko Mori, Toshinori Masaki, Hideaki Yokogawa, Keiko Fujiki, Ai Yanagawa, Akira Murakami, Kazuhisa Sugiyama
PURPOSE: To report genetic mutational analysis and in vivo histology of Meesmann corneal dystrophy. STUDY DESIGN: Prospective, case control study. METHODS: Six patients from three independent families with clinically diagnosed Meesmann corneal dystrophy were enrolled in this study. Slit-lamp biomicroscopy with fluorescein vital staining, anterior segment optical coherence tomography (AS-OCT), and in vivo laser confocal microscopy (IVCM) were performed on selected patients...
December 7, 2018: Japanese Journal of Ophthalmology
Anastasia Marie Litke, Sarah Samuelson, Kerry R Delaney, Yves Sauvé, Robert L Chow
Purpose: Despite numerous studies associating Visual System Homeobox 1 (VSX1), with posterior polymorphous corneal dystrophy and keratoconus, its role in these diseases is unclear. Here we examine the pathogenicity of VSX1 missense mutations in vitro and in a mouse genetic model. Methods: Vsx1 transcriptional repressor activity, protein stability, and subcellular localization activity, was examined using luciferase reporter-based assays, western blotting and immunolabeling, respectively, in transfected human embryonic kidney 293T cells...
December 3, 2018: Investigative Ophthalmology & Visual Science
Dorcas K Tsang, Frank Spors, Jie Shen, Lance E McNaughton, Donald J Egan
Keratoconus is a progressive corneal disease characterized by bilateral yet usually asymmetric thinning of the cornea with an onset typically in teenage years. While it often presents as an isolated condition, keratoconus may also be associated with many systemic and/or ocular diseases, such as connective tissue and chromosomal disorders. Its association with nystagmus has been described in Leber's congenital amaurosis, where patients also exhibit abnormal pupillary responses, early-onset retinal dystrophy, mental developmental delays, and eventual blindness...
2018: Medical Hypothesis, Discovery and Innovation in Ophthalmology
Sze Wah Samuel Chan, Yeni Yucel, Neeru Gupta
OBJECTIVE: To assess trends in surgical procedures and indications for all corneal transplants performed at the University of Toronto. DESIGN: Retrospective cross-sectional study. PARTICIPANTS: One thousand one hundred and four consecutive corneal transplants performed at the Kensington Eye Institute (KEI). METHODS: Demographic, clinical, and pathological data retrieved from the Ophthalmic Pathology Laboratory on all corneal transplants performed at the KEI from January 2014 to December 2016...
December 2018: Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie
Matthew D Benson, Khaliq Kurji, Calvin Tseng, Bo Bao, Dean Mah
OBJECTIVE: To study indications for penetrating keratoplasty (PK) at a single site. The trends in the causative organisms for infectious keratitis requiring surgery were also evaluated. DESIGN: Retrospective observational study. PARTICIPANTS: A total of 1181 eyes of 935 patients undergoing PK between January 2000 and December 2015 in Northern Alberta, Canada. METHODS: Indications for PK were evaluated over the 16-year study period, and the trends in these indications were compared over 5-year intervals...
December 2018: Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie
Steven S Bae, Clara C Chan
INTRODUCTION: To evaluate the indications and outcomes of manual blade superficial keratectomy STUDY DESIGN: Retrospective, nonrandomized, consecutive case series METHODS: Database search of patients from 2012-2017 who underwent superficial keratectomy was conducted at a tertiary care hospital cornea clinic. Charts of 121 patients (156 eyes) were reviewed who had at least 4 weeks of follow-up and both preoperative and postoperative measurements of best-corrected visual acuity or corneal cylinder...
December 2018: Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie
Rénuka S Birbal, C Maya Tong, Isabel Dapena, John S Parker, Jack S Parker, Silke Oellerich, Gerrit R J Melles
PURPOSE: To evaluate the feasibility and clinical outcomes of Descemet membrane endothelial keratoplasty (DMEK) in eyes with a glaucoma drainage device (GDD). DESIGN: Retrospective, interventional case series. METHODS: Clinical outcomes of 23 DMEK procedures for bullous keratopathy (52%), failed previous transplant (39%) or Fuchs endothelial corneal dystrophy (9%) in 20 eyes (19 patients) with a GDD were retrospectively analyzed at two tertiary referral centers...
November 28, 2018: American Journal of Ophthalmology
Borja Salvador-Culla, Maddi Alonso-Agesta, Juan Álvarez de Toledo, Rafael I Barraquer
PURPOSE: To present a new technique for treating Lisch epithelial corneal dystrophy (LECD) in cases of recurrence of the disease. METHODS: We present a single case report of a 41-year-old man who presented to the cornea clinic with progressive loss of vision in the right eye. Slit-lamp examination showed a large white-gray whorl-like epithelial opacity connected to the limbus, which spread over the visual axis, affecting visual acuity. The left eye was uninvolved...
November 27, 2018: Cornea
S V Trufanov, L Yu Tekeeva, E P Salovarova, R Z Bag, E V Sukhanova
The article reviews modern clinical, morphological, and genetic aspects of corneal dystrophies based on the most recent international classification updated in 2015. Corneal dystrophies is a group of slow progressing, non-inflammatory corneal pathologies, most of which are characterized by variability of the associated traits. The existence of such pathologies makes important their differential diagnosis from acute inflammatory processes of various etiology, which require urgent therapy. Conservative treatment suitable for dystrophies is usually associated with disorders of the anterior corneal surface and employ symptomatic tactic (lubricants, epithelizing agents, soft contact lenses)...
2018: Vestnik Oftalmologii
S V Trufanov, E P Salovarova, L Yu Tekeeva
Degeneration is the process of change occurring in cells, their parts or intracellular matter that happens due to external factors affecting the life of an organism and results in gradual disruption of normal condition of the tissue or the organ, and possibly complete loss of its functionality. Corneal degenerations may be caused by age-related physiological changes, associated with a certain systemic disease or local inflammations, or be the consequence of chronic toxic action of unhealthy environmental factors on the eye...
2018: Vestnik Oftalmologii
Claudio Iovino, Maurizio Fossarello, Giuseppe Giannaccare, Marco Pellegrini, Mirco Braghiroli, Giuseppe Demarinis, Pietro Emanuele Napoli
PURPOSE: To evaluate the feasibility of 3D anterior segment optical coherence tomography (AS-OCT) for the detection of corneal endothelial features in patients with Fuchs' Endothelial Corneal Dystrophy (FECD). METHODS: Twenty patients with clinical diagnosis of FECD (group A), and 20 control subjects (group B) were enrolled. In all patients a complete ophthalmological examination was performed, including best corrected visual acuity (BCVA), slit lamp examination for subjective grading of FECD and corneal endothelial specular microscopy...
2018: PloS One
So Young Kim, Areum Yeo, Hyemi Noh, Yong Woo Ji, Jong Suk Song, Hyeon Chang Kim, Lark Kyun Kim, Hyung Keun Lee
Purpose: Granular corneal dystrophy type 2 (GCD2) is caused by a point mutation (R124H) in the TGF-β-induced gene (TGFBI). However, the mechanisms underlying the accumulation of TGF-β-induced protein (TGFBIp) are poorly understood. Therefore, we evaluated the signaling cascade affecting the expression of TGFBIp using patient-derived cells. Methods: Keratocyte primary cultures were prepared from corneas from the eye bank or from heterozygous or homozygous patients with GCD2 after penetrating or lamellar keratoplasty...
November 1, 2018: Investigative Ophthalmology & Visual Science
Abolfazl Rad, Umut Altunoglu, Rebecca Miller, Reza Maroofian, Kiely N James, Ahmet Okay Çağlayan, Maryam Najafi, Valentina Stanley, Rose-Mary Boustany, Gözde Yeşil, Afsaneh Sahebzamani, Gülhan Ercan-Sencicek, Kolsoum Saeidi, Kaman Wu, Peter Bauer, Zeineb Bakey, Joseph G Gleeson, Natalie Hauser, Murat Gunel, Hulya Kayserili, Miriam Schmidts
BACKGROUND: Putative nucleotidyltransferase MAB21L1 is a member of an evolutionarily well-conserved family of the male abnormal 21 (MAB21)-like proteins. Little is known about the biochemical function of the protein; however, prior studies have shown essential roles for several aspects of embryonic development including the eye, midbrain, neural tube and reproductive organs. OBJECTIVE: A homozygous truncating variant in MAB21L1 has recently been described in a male affected by intellectual disability, scrotal agenesis, ophthalmological anomalies, cerebellar hypoplasia and facial dysmorphism...
November 28, 2018: Journal of Medical Genetics
B Bachmann, S Schrittenlocher, M Matthaei, S Siebelmann, C Cursiefen
BACKGROUND: Descemet membrane endothelial keratoplasty (DMEK) has become the standard surgical treatment for Fuchs' endothelial corneal dystrophy (FECD) in Germany. In addition to classical FECD, there are endothelial disorders amenable to DMEK associated with complex changes in the anterior segment of the eye, such as anterior synechia of the iris, larger iris defects, after glaucoma surgery, after vitrectomy and after trauma. OBJECTIVE: This article provides an overview of the possibilities to treat patients with complex anterior segment situations in the presence of corneal endothelial decompensation with DMEK...
November 26, 2018: Der Ophthalmologe: Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
Brian C Leonard, Iman Jalilian, Vijay Krishna Raghunathan, Wei Wang, Albert S Jun, Christopher J Murphy, Sara M Thomasy
Early-onset Fuchs endothelial corneal dystrophy (FECD) has been associated with nonsynonymous mutations in collagen VIII α2 (COL8A2), a key extracellular matrix (ECM) protein in Descemet's membrane (DM). Two knock-in strains of mice have been generated to each express a mutant COL8A2 protein (Col8a2L450W/L450W and Col8a2Q455K/Q455K ) that recapitulate the clinical phenotype of early-onset FECD including endothelial cell loss, cellular polymegathism and pleomorphism, and guttae. Due to abnormalities in ECM protein composition and structure in FECD, the stiffness of DM in Col8a2 knock-in mice and wildtype (WT) controls was measured using atomic force microscopy at 5 and 10 months of age, coinciding with the onset of FECD phenotypic abnormalities...
November 21, 2018: Experimental Eye Research
M Gonzalvez, G Ho Wang Yin, P Gascon, D Denis, L Hoffart
INTRODUCTION: The objective of this article is to describe the evolution of Schnyder dystrophy in 3 related patients of different ages and to highlight the discovery of a new mutation unidentified until now. CASE REPORT: We present a series of 3 cases, all first-degree relatives with no suggestion of consanguinity, of different ages (30, 40 and 59 years) and two distinct generations (mother and children). Slit lamp examination revealed the same lesions in our three patients: an early-onset corneal arcus senilis, central corneal deposits, and a gray stromal haze in the two oldest subjects...
November 13, 2018: Journal Français D'ophtalmologie
R Atia, L Jouve, C Georgon, L Laroche, V Borderie, N Bouheraoua
No abstract text is available yet for this article.
November 13, 2018: Journal Français D'ophtalmologie
Anna Matysik-Woźniak, Artur Wnorowski, Waldemar A Turski, Krzysztof Jóźwiak, Anselm Jünemann, Robert Rejdak
We provide the evidence for G protein-coupled receptor 35 (GPR35) and its presence and distribution in the human cornea. The initial data on GPR35 gene expression were retrieved from microarray repositories and were further confirmed by western blotting and immunohistochemical analysis. Immunoblotting suggested that GPR35 exists predominantly as a dimer in corneal tissue. Moreover, corneal tissues were significantly richer in GPR35 compared to the adjacent sclera. Immunoreactivity for GPR35 was detected in normal corneas, keratoconus and Fuchs dystrophy, mainly in the corneal epithelium and endothelium...
November 13, 2018: Experimental Eye Research
Jorge L Alió Del Barrio, Jorge L Alió
Cellular therapy of the corneal stroma, with either ocular or extraocular stem cells, has been gaining a lot of interest over the last decade. Multiple publications from different research groups are showing its potential benefits in relation to its capacity to improve or alleviate corneal scars, improve corneal transparency in metabolic diseases by enhancing the catabolism of the accumulated molecules, generate new organized collagen within the host stroma, and its immunosuppressive and immunomodulatory properties...
2018: Eye and Vision (London, England)
Subhadeep Roy, Saumya Yadav, Tanushree Dasgupta, Shikha Chawla, Radhika Tandon, Sourabh Ghosh
Keratoconus (KC) is a bilateral corneal dystrophy and a multifactorial, multigenic disorder with an etiology involving a strong environmental component and complex inheritance patterns. The underlying pathophysiology of KC is poorly understood because of potential crosstalk between genetic-epigenetic variants possibly triggered by the environmental factors. Here, we decode the etiopathological basis of KC using genomic, transcriptomic, proteomic and metabolic approaches. The lack of relevant models that accurately imitate this condition has been particularly limiting in terms of the effective management of KC...
November 5, 2018: Drug Discovery Today
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