Article
Ophthalmology
Shazia Ashraf, Neha Deshpande, Shivakumar Vasanth, Geetha Melangath, Raymond J. Wong, Yan Zhao, Marianne O. Price, Francis W. Price Jr, Ula V. Jurkunas
Summary: Fuchs Endothelial Corneal Dystrophy (FECD) is a common cause of corneal endothelial degeneration and is associated with CTG repeat expansion in TCF4 gene. Accumulation of nuclear and mitochondrial DNA damage was observed in FECD, with mtDNA damage being prominent in the UVA-induced FECD mouse model. Impaired DNA repair pathways were identified in FECD specimens through analysis of gene expression profiles. These findings suggest that DNA repair dysfunction may contribute to the increased DNA damage seen in FECD.
EXPERIMENTAL EYE RESEARCH
(2023)
Article
Ophthalmology
Nicolas J. Heckenlaible, Chen Dun, Christina Prescott, Allen O. Eghrari, Fasika Woreta, Martin A. Makary, Divya Srikumaran
Summary: The study aimed to identify factors associated with the receipt of EK and PK in patients with FECD. The findings revealed that gender and racial background are important factors influencing the likelihood of receiving EK and PK.
Review
Ophthalmology
Stephan Ong Tone, Viridiana Kocaba, Myriam Bohm, Adam Wylegala, Tomas L. White, Ula V. Jurkunas
Summary: Fuchs endothelial corneal dystrophy (FECD) is the most common primary corneal endothelial dystrophy characterized by the decline of corneal endothelial cells and the formation of extracellular matrix excrescences, leading to corneal edema and loss of vision. It is a complex and heterogeneous genetic disease with a higher incidence in women, caused by a combination of genetic and environmental factors.
PROGRESS IN RETINAL AND EYE RESEARCH
(2021)
Article
Medicine, General & Internal
Usanee Reinprayoon, Monthira Jermjutitham, Ngamjit Kasetsuwan
Summary: This study found that with the increasing severity of Fuchs' endothelial corneal dystrophy (FECD), the rate of endothelial cell loss increased and the corneal biomechanical properties changed. In the advanced stage, the corneas significantly altered their viscoelastic behavior by decreasing resistance.
FRONTIERS IN MEDICINE
(2021)
Article
Ophthalmology
Agathe Hribek, Thomas Clahsen, Jens Horstmann, Sebastian Siebelmann, Niklas Loreck, Ludwig M. Heindl, Bjorn O. Bachmann, Claus Cursiefen, Mario Matthaei
Summary: This study aimed to assess the correlation of CEC density with alterations of collagen composition of DM in FECD patients. The presence of a geographic pattern fibrillar layer in DEC was unveiled, which can be imaged by slit-lamp biomicroscopy, and the CEC density in the fibrillar layer region significantly decreased.
AMERICAN JOURNAL OF OPHTHALMOLOGY
(2021)
Article
Medicine, General & Internal
Orlando Oezer, Mert Mestanoglu, Antonia Howaldt, Thomas Clahsen, Petra Schiller, Sebastian Siebelmann, Niklas Reinking, Claus Cursiefen, Bjoern Bachmann, Mario Matthaei
Summary: This study investigated the association of central subendothelial geographic deposits (FL) with edema formation in advanced Fuchs endothelial corneal dystrophy (FECD) and analyzed their localization. The results showed that the FL was associated with increased corneal thickness primarily in the central and inferotemporal region. These findings provide important information for the evaluation and treatment decision-making for FECD patients.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Biochemistry & Molecular Biology
Tomas L. White, Neha Deshpande, Varun Kumar, Alex G. Gauthier, Ula V. Jurkunas
Summary: Fuchs endothelial corneal dystrophy is an age-related disease that causes vision loss due to the progressive loss of corneal endothelial cells. The study has shown a causal relationship between senescence and endothelial-mesenchymal transition, with UVA light inducing EMT and senescence in CEnCs. Inhibiting ATR signaling and preventing G2/M arrest attenuated EMT, while selectively eliminating senescent cells using dasatinib and quercetin cocktail reduced UVA-induced fibrosis, suggesting a potential new therapeutic intervention for FECD.
FREE RADICAL BIOLOGY AND MEDICINE
(2021)
Article
Biochemistry & Molecular Biology
Ida Maria Westin, Mattias Landfors, Antonios Giannopoulos, Andreas Viberg, Pia Osterman, Berit Bystrom, Sofie Degerman, Irina Golovleva
Summary: Late-onset Fuchs endothelial corneal dystrophy (FECD) is associated with CTG18.1 expansions in the TCF4 gene, causing specific methylation changes in corneal endothelium. Gene expression analysis showed altered expression of AQP1, F5, and THBD in FECD, while age-dependent hypomethylation was observed in healthy corneal endothelium.
CELLULAR AND MOLECULAR LIFE SCIENCES
(2023)
Review
Genetics & Heredity
Spela Stunf Pukl
Summary: This study reviewed the miRNA expression associated with epithelial mesenchymal transition (EMT) in Fuchs' endothelial corneal dystrophy (FECD), finding limited publications but valuable information regarding potential biomarkers. The corneal tissue of FECD patients demonstrated a miRNA-184 seed-region mutation and unidirectional downregulation of miRNA expression led by miRNA-29.
Review
Ophthalmology
Xuerui Liu, Tao Zheng, Chuchu Zhao, Yi Zhang, Hanruo Liu, Liyuan Wang, Ping Liu
Summary: Fuchs endothelial corneal dystrophy is a hereditary disease characterized by a decrease in endothelial cells and thickening of Descemet's membrane. Currently, apart from corneal transplantation, there is no other effective treatment available.
Article
Ophthalmology
Brian C. Leonard, Sangwan Park, Soohyun Kim, Laura J. Young, Iman Jalilian, Krista Cosert, Xunzhi Zhang, Jessica M. Skeie, Hanna Shevalye, Nayeli Echeverria, Vanessa Rozo, Xin Gong, Chao Xing, Christopher J. Murphy, Mark A. Greiner, V. Vinod Mootha, Vijay Krishna Raghunathan, Sara M. Thomasy
Summary: This study examines the role of Wwtr1 in murine ocular structure and function, and its relationship with FECD. The results suggest that Wwtr1 deficient mice exhibit phenotypic abnormalities similar to FECD-affected patients, indicating that they could serve as a murine model for late-onset FECD.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2023)
Article
Ophthalmology
Francisco Arnalich-montiel, Pablo De-Arriba-palomero, Alfonso Muriel, David Mingo-botin
Summary: Using Scheimpflug imaging, a risk prediction model was developed for endothelial keratoplasty after uncomplicated cataract surgery in Fuchs endothelial corneal dystrophy patients. The combination of corneal measurements and morphological features can help create a risk score model to guide clinical decision-making for EK post-phacoemulsification.
AMERICAN JOURNAL OF OPHTHALMOLOGY
(2021)
Article
Ophthalmology
Cari W. Nealon, Christopher R. Halladay, Bryan Gorman, Piana P. Simpson, David L. Roncone, Rachael A. Canania, Scott R. Anthony, Lea N. Sawicki Rogers, Jenna M. Leber, Jacquelyn N. Dougherty, Jessica C. Cooke Bailey, Dana M. Crawford, Jack Sullivan, Anat Galor, Wen-Chih B. Wu, Paul H. Greenberg, Sudha K. Million Vet Program, Jonathan S. Lass, Sudha Iyengar, Neal Peachey
Summary: The aim of this study was to assess the risk factors associated with Fuchs endothelial corneal dystrophy (FECD), including demographic variables and other health conditions. Data from the Department of VA Million Veteran Program cohort were used to develop a FECD case-control algorithm and analyze the association with risk factors. The study found that being a FECD case was associated with female sex, European genetic ancestry, and a greater number of comorbidities, as well as specific diagnostic codes and laboratory values, including diabetes mellitus (DM).
Article
Ophthalmology
Timothy T. Xu, Keith H. Baratz, Michael P. Fautsch, David O. Hodge, Michael A. Mahr
Summary: This study found that patients aged 65 years or older with Fuchs endothelial corneal dystrophy (FECD) may have an increased risk of cancer at multiple anatomical locations, while their risk of lung and prostate cancer is lower.
Article
Ophthalmology
Marina Bertolin, Mattia Lamon, Elena Franco, Vanessa Barbaro, Stefano Ferrari, Cristina Bovone, Angeli Christy Yu, Mohit Parekh, Diego Ponzin, Massimo Busin
Summary: Endothelial keratoplasty is the preferred surgical treatment for FECD, but a lack of corneal donor tissue in many parts of the world hinders its application. Cell therapy is being investigated as an alternative strategy, with studies showing factors influencing FECD cell culture characteristics and the challenges of using autologous cell therapy in clinical settings. More research is needed to overcome obstacles like low initial cell concentration and endothelial-to-mesenchymal transition for the application of FECD cultures.
EXPERIMENTAL EYE RESEARCH
(2021)
Article
Oncology
Ryuma Tokunaga, Shu Cao, Madiha Naseem, Francesca Battaglin, Jae Ho Lo, Hiroyuki Arai, Fotios Loupakis, Sebastian Stintzing, Alberto Puccini, Martin D. Berger, Shivani Soni, Wu Zhang, Christoph Mancao, Bodour Salhia, Shannon M. Mumenthaler, Daniel J. Weisenberger, Gangning Liang, Chiara Cremolini, Volker Heinemann, Alfredo Falcone, Joshua Millstein, Heinz-Josef Lenz
INTERNATIONAL JOURNAL OF CANCER
(2019)
Meeting Abstract
Oncology
Ryuma Tokunaga, Shu Cao, Francesca Battaglin, Jae Ho Lo, Fotios Loupakis, Sebastian Stintzing, Madiha Naseem, Alberto Puccini, Martin D. Berger, Wu Zhang, Christoph Mancao, Bodour Salhia, Shannon M. Mumenthaler, Daniel J. Weisenberger, Gangning Liang, Chiara Cremolini, Volker Heinemann, Alfredo Falcone, Joshua Millstein, Heinz-Josef Lenz
JOURNAL OF CLINICAL ONCOLOGY
(2019)
Review
Genetics & Heredity
Hemant Gujar, Daniel J. Weisenberger, Gangning Liang
Article
Oncology
Alberto Puccini, Fotios Loupakis, Sebastian Stintzing, Shu Cao, Francesca Battaglin, Ryuma Togunaka, Madiha Naseem, Martin D. Berger, Shivani Soni, Wu Zhang, Christoph Mancao, Bodour Salhia, Shannon M. Mumenthaler, Daniel J. Weisenberger, Gangning Liang, Chiara Cremolini, Volker Heinemann, Alfredo Falcone, Joshua Millstein, Heinz-Josef Lenz
EUROPEAN JOURNAL OF CANCER
(2019)
Meeting Abstract
Oncology
Hiroyuki Arai, Shu Cao, Fotios Loupakis, Sebastian Stintzing, Ryuma Tokunaga, Francesca Battaglin, Jae Ho Lo, Shivani Soni, Wu Zhang, Christoph Mancao, Bodour Salhia, Shannon M. Mumenthaler, Daniel J. Weisenberger, Gangning Liang, Chiara Cremolini, Volker Heinemann, Alfredo Falcone, Joshua Millstein, Heinz-Josef Lenz
JOURNAL OF CLINICAL ONCOLOGY
(2019)
Article
Oncology
Brittny C. Davis Lynn, Clara Bodelon, Ruth M. Pfeiffer, Hannah P. Yang, Howard H. Yang, Maxwell Lee, Peter W. Laird, Mihaela Campan, Daniel J. Weisenberger, Jeanne Murphy, Joshua N. Sampson, Eva P. Browne, Douglas L. Anderton, Mark E. Sherman, Kathleen F. Arcaro, Gretchen L. Gierach
CANCER PREVENTION RESEARCH
(2019)
Article
Multidisciplinary Sciences
Marie Wolf, Selene M. Clay, Siyu Zheng, Peipei Pan, Matilda F. Chan
SCIENTIFIC REPORTS
(2019)
Article
Multidisciplinary Sciences
Sonali Chaturvedi, Jonathan Klein, Noam Vardi, Cynthia Bolovan-Fritts, Marie Wolf, Kelvin Du, Luwanika Mlera, Meredith Calvert, Nathaniel J. Moorman, Felicia Goodrum, Bo Huang, Leor S. Weinberger
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2020)
Article
Biochemistry & Molecular Biology
Sonali Chaturvedi, Michael Pablo, Marie Wolf, Daniel Rosas-Rivera, Giuliana Calia, Arjun J. Kumar, Noam Vardi, Kelvin Du, Joshua Glazier, Ruian Ke, Matilda F. Chan, Alan S. Perelson, Leor S. Weinberger
Summary: This study found that disrupting transcriptional negative feedback can effectively inhibit viral replication and confer a high genetic barrier to resistance, providing a new approach for developing novel antimicrobials.
Article
Biochemistry & Molecular Biology
Ricardo Lamy, Marie Wolf, Claudia Bispo, Selene M. Clay, Siyu Zheng, Finn Wolfreys, Peipei Pan, Matilda F. Chan
Summary: This study characterized the kinetics of recruited mononuclear phagocytes (MP) in corneal wound healing and evaluated the role of macrophage metalloelastase (MMP12). The findings show the temporal phenotypic plasticity of recruited MPs and suggest the potential role of MP-targeted therapies in corneal repair response.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Ophthalmology
Jacqueline B. Lopez, Lawrence Chan, Murtaza Saifee, Sriranjani Padmanabhan, Madeline Yung, Matilda F. F. Chan
Summary: This study investigates the risk factors, treatment noncompliance, and poor outcomes for patients with infectious keratitis in the county hospital setting. The results show that unemployment, homelessness, and increasing age are associated with higher risk of loss to follow-up, medication noncompliance, worsened visual acuity, and delayed resolution time.
Article
Ophthalmology
Matilda F. F. Chan, Peipei Pan, Finn D. D. Wolfreys
Summary: Major advances in genomics have increased our understanding of FECD and identified various genetic causes and associations. Biomarkers derived from these studies have the potential to inform clinical treatment and facilitate the development of novel therapeutics for this corneal dystrophy.
Article
Ophthalmology
Marie Wolf, Selene M. Clay, Catherine E. Oldenburg, Jennifer Rose-Nussbaumer, David G. Hwang, Matilda F. Chan
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2019)