Read by QxMD icon Read

Corneal dystrophy

Connie Chao-Shern, Lawrence A DeDionisio, Jun-Heok Jang, Clara C Chan, Vance Thompson, Kathleen Christie, M Andrew Nesbit, C B Tara McMullen
To date, 70 different TGFBI mutations that cause epithelial-stromal corneal dystrophies have been described. At present one commercially available test examines for the five most common of these mutations: R124H, R124C, R124L, R555W, and R555Q. To expand the capability of identifying the causative mutation in the remaining cases, 57 mutations would need to be added. The aim of this study was to obtain a better understanding of the worldwide distribution and population differences of TGFBI mutations and to assess which mutations could be included or excluded from any potential assay...
February 13, 2019: Eye
Shawn Rong Lin, Anthony J Aldave, James Chodosh
Recurrent corneal erosion syndrome (RCES) is a disorder characterised by a dysfunctional epithelial ecosystem. It often begins after trauma, or in the setting of epithelial basement membrane degeneration or dystrophy. Historically, RCES has been understood as a structural derangement of the anterior corneal architecture. More recently, studies have demonstrated the important role of neuropeptides in corneal homoeostasis. Thus, RCES may also be understood as a disorder of corneal epithelial cell biology. Management of RCES can be challenging, but newer therapies have demonstrated improved efficacy for this condition...
February 13, 2019: British Journal of Ophthalmology
Eung Kweon Kim, Seunghyuk Kim, Yong-Sun Maeng
Corneal dystrophy is an autosomal dominant disorder caused by mutations of the transforming growth factor β-induced (TGFBI) gene on chromosome 5q31.8. This disease is therefore ideally suited for gene therapy using genome-editing technology. Here, we isolated human limbal epithelial stem cells (ABCG2+/ABCB5+ double-positive LESCs) and established a TGFBI knockout using RNA-guided clustered regularly interspaced short palindromic repeats (CRISPR)/Cas9 genome editing. An LESC clone generated with a single-guide RNA (sgRNA) targeting exon 4 of the TGFBI gene was sequenced in order to identify potential genomic insertions and deletions near the Cas9/sgRNA-target sites...
2019: PloS One
Asim Visal Farooq, Kathryn Colby
Among the group of diseases comprising corneal dystrophies, there are a number for which contact lenses may be considered. For example, soft contact lenses may be beneficial in the management of recurrent corneal erosions and advanced bullous keratopathy and may lead to disease attenuation in some conditions. They also may be used in conjunction with surgical procedures to promote tissue healing and patient comfort in the postoperative period. Rigid contact lenses may be beneficial in the setting of irregular astigmatism...
February 8, 2019: Klinische Monatsblätter Für Augenheilkunde
Nathaniel J Hafford-Tear, Yu-Chih Tsai, Amanda N Sadan, Beatriz Sanchez-Pintado, Christina Zarouchlioti, Geoffrey J Maher, Petra Liskova, Stephen J Tuft, Alison J Hardcastle, Tyson A Clark, Alice E Davidson
PURPOSE: To demonstrate the utility of an amplification-free long-read sequencing method to characterize the Fuchs endothelial corneal dystrophy (FECD)-associated intronic TCF4 triplet repeat (CTG18.1). METHODS: We applied an amplification-free method, utilizing the CRISPR/Cas9 system, in combination with PacBio single-molecule real-time (SMRT) long-read sequencing, to study CTG18.1. FECD patient samples displaying a diverse range of CTG18.1 allele lengths and zygosity status (n = 11) were analyzed...
February 8, 2019: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Marian S Macsai, Mira Shiloach
PURPOSE: Fuchs corneal dystrophy (FD) is a common cause of endothelial keratoplasty. Recently, a series of FD cases treated with Descemet stripping only (DSO) demonstrated recovery of the central endothelium without transplantation of donor cells. Ripasudil, a rho kinase inhibitor, has been shown to promote corneal endothelial wound healing in animal models. This study prospectively evaluated the use of ripasudil in patients undergoing DSO for FD. METHODS: Enrolled patients underwent DSO with or without cataract surgery, performed by 1 surgeon...
February 1, 2019: Cornea
Jing Zhang, Dan Wu, Yue Li, Yidan Fan, Yiqin Dai, Jianjiang Xu
Macular corneal dystrophy (MCD) is an autosomal recessive disease featured by bilateral progressive stromal clouding and loss of vision, consequently necessitating corneal transplantation. Variants in CHST6 gene have been recognized as the most critical genetic components in MCD. Although many CHST6 variants have been described until now, the detailed mechanisms underlying MCD are still far from understood. In this study, we integrated all the reported CHST6 variants described in 408 MCD cases, and performed a comprehensive evaluation to better illustrate the causality of these variants...
February 4, 2019: Aging
Claudia Busse, Christiane Kafarnik, Rose Linn-Pearl, Christelle Volmer, Kaspar Matiasek, Johana E Premont, Thomas Dulaurent, Jean-Yves Douet, Ida Gilbert, Sari Jalomäki, Katrin Trost, Pierre-Francois Isard, Ryan Boyd, Isabelle Raymond
OBJECTIVE: To describe the phenotype of canine macular corneal dystrophy (MCD) including the clinical presentation, multimodal ocular imaging, histopathology, and ultrastructural analysis in ten Labrador Retrievers. PROCEDURE: Multicentered data collection. RESULTS: Labrador Retrievers affected by MCD were presented between the age of 4.5 and 6 years of age with a history of cloudy eyes and/or visual impairment. Findings on ophthalmic examination included a diffuse haze of the corneal stroma and multiple, well-demarcated, off-white to yellow-brown, punctate corneal opacities heterogeneous in size...
January 30, 2019: Veterinary Ophthalmology
Lynn M Martin, Nallathambi Jeyabalan, Ratnakar Tripathi, Trailokyanath Panigrahi, Philip J Johnson, Arkasubhra Ghosh, Rajiv R Mohan
Autophagy is a well-conserved self-eating mechanism of cell survival during periods of nutrient deprivation, stress and injury. Autophagy is implicated in many pathophysiological conditions across all organ systems. The cornea is an avascular transparent tissue that is prone to damage by trauma, injury and infection. Following insult, the cornea undergoes a complex wound healing process, which is regulated by multiple factors including autophagy. The involvement of autophagy in keratoconus and HSV-1 infection has been demonstrated, underlining the importance of this mechanism in corneal disorders...
January 25, 2019: Ocular Surface
Mariam El-Abiary, Charles Diaper
Oculopharyngeal Muscular Dystrophy (OPMD) is a systemic progressive autosomal dominant myopathy which results in ptosis due to levator weakness. Surgical correction can be complicated by corneal exposure and a non-surgical alternative, such as ptosis props, can be uncomfortable in patients with preserved orbicularis function. We describe a case of a 57-year-old gentleman with OPMD, who declined surgical intervention, and self-manages his ptosis with cosmetic glue.
January 27, 2019: Orbit
H Moutei, F Chraïbi, M Abdellaoui, I A Benatiya
No abstract text is available yet for this article.
January 23, 2019: Journal Français D'ophtalmologie
Renato Ambrósio, Frederico P Guerra
No abstract text is available yet for this article.
February 2019: Ophthalmology
Yu Qiang Soh, Gary Peh Swee Lim, Hla Myint Htoon, Xin Gong, V Vinod Mootha, Eranga Nishanthie Vithana, Viridiana Kocaba, Jodhbir Singh Mehta
PURPOSE: To determine if CTG18.1 TNR expansion length prognosticates the clinical progression of Fuchs' Endothelial Corneal Dystrophy (FECD). METHODS: This was a prospective cohort study. A total of 51 patients with newly diagnosed FECD were recruited and followed-up over a period of 12 years, from November 2004 to April 2016. Baseline clinical measurements included central corneal thickness (CCT), endothelial cell density (ECD) and CTG18.1 TNR expansion length from peripheral leukocytes, with yearly repeat measurements of CCT and ECD...
2019: PloS One
Francisco Arnalich-Montiel, David Mingo-Botín, Ana Diaz-Montealegre
PURPOSE: To characterize pachymetric, keratometric, and surface elevation parameters in pseudophakic eyes with Fuchs dystrophy that underwent Descemet membrane endothelial keratoplasty (DMEK) and to compare these characteristics with those in normal pseudophakic eyes. METHODS: Postoperative corneal tomography with a median follow-up of 20 months was evaluated using the Pentacam tomographer on 46 DMEK eyes. Results were compared with data from an age-matched cohort of 46 normal eyes...
January 22, 2019: Cornea
R Atia, L Jouve, C Georgon, L Laroche, V Borderie, N Bouheraoua
No abstract text is available yet for this article.
January 21, 2019: Journal Français D'ophtalmologie
Jiaxin Hu, Xiulong Shen, Frank Rigo, Thahza P Prakash, V Vinod Mootha, David R Corey
Fuchs' endothelial corneal dystrophy (FECD) leads to vision loss and is one of the most common inherited eye diseases. Corneal transplants are the only curative treatment available, and there is a major unmet need for treatments that are less invasive and independent of donor tissue. Most cases of FECD are associated with an expanded CUG repeat within the intronic region of TCF4 and the mutant RNA has been implicated as the cause of the disease. We previously presented preliminary data suggesting that single-stranded antisense oligonucleotides (ASOs) can inhibit CUG RNA foci in patient-derived cells and tissue...
January 24, 2019: Nucleic Acid Therapeutics
Morgan R Godin, Christopher S Boehlke, Terry Kim, Preeya K Gupta
PURPOSE: To evaluate whether lens status influences clinical outcomes of Descemet membrane endothelial keratoplasty (DMEK) in patients who underwent DMEK in phakia, pseudophakia, or combined with cataract surgery (triple). METHODS: A retrospective review of 139 eyes (107 patients) with symptomatic Fuchs' dystrophy or secondary corneal edema was performed. Patients were divided into 3 groups: 1) DMEK + cataract surgery, 2) DMEK in pseudophakia, and 3) DMEK in phakia...
January 21, 2019: Cornea
Xiao-Yang Luo, Wei Dai, Miao-Li Chee, Yijin Tao, Jacqueline Chua, Nicholas Y Q Tan, Yih-Chung Tham, Tin Aung, Tien Yin Wong, Ching-Yu Cheng
Importance: Thicker or thinner central corneas may lead to either overestimation or underestimation of intraocular pressure, which is the most important causal and treatable risk factor for glaucoma. However, the findings on the associations between diabetes, random glucose, and glycated hemoglobin A1c (HbA1c) with central corneal thickness (CCT) are conflicting. Objective: To evaluate the associations between diabetes, random glucose, and HbA1c with CCT in a multiethnic Asian population...
January 4, 2019: JAMA network open
Orathai Tangvarasittichai, Surapon Tangvarasittichai
BACKGROUND: Oxidative stress, an increased free radicals or oxidant productions result in cellular degeneration and neurodegeneration by damage all macromolecules, inducing lipid peroxidation, protein modification, DNA damage and apoptosis or cell death. METHODS: Accumulation of the DNA damage (8HOdG) products and the end products of LPO (including aldehyde, diene, triene conjugates and Schiff's bases) were noted in the research studies. Significant higher in the levels of these products in comparison with the control were observed...
January 15, 2019: Current Pharmaceutical Design
Peng Xu, Chifune Kai, Satoshi Kawasaki, Yuki Kobayashi, Kouji Yamamoto, Motokazu Tsujikawa, Ryuhei Hayashi, Kohji Nishida
Purpose: Gelatinous drop-like corneal dystrophy (GDLD) is a rare autosomal recessive corneal dystrophy that causes severe vision loss. Because of its poor prognosis, there is a demand for novel treatments for GDLD. Here, we establish a new in vitro disease model of GDLD based on immortalized human corneal epithelial (HCE-T) cells. Methods: By using transcription activator-like effector nuclease plasmids, tumor-associated calcium signal transducer 2 ( TACSTD2 ) and its paralogous gene, epithelial cell adhesion molecule ( EpCAM ), were knocked out in HCE-T cells...
November 2018: Translational Vision Science & Technology
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"