Fuchs' Endothelial Corneal Dystrophy and RNA Foci in Patients With Myotonic Dystrophy
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چکیده
منابع مشابه
Cornea Fuchs’ Endothelial Corneal Dystrophy and RNA Foci in Patients With Myotonic Dystrophy
V. Vinod Mootha, Brock Hansen, Ziye Rong, Pradeep P. Mammen, Zhengyang Zhou, Chao Xing, and Xin Gong Department of Ophthalmology, University of Texas Southwestern Medical Center, Dallas, Texas, United States McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, Texas, United States Department of Internal Medicine, University of Texas Southwe...
متن کاملFuchs' Endothelial Corneal Dystrophy and RNA Foci in Patients With Myotonic Dystrophy
Purpose The most common cause of Fuchs' endothelial corneal dystrophy (FECD) is an intronic CTG repeat expansion in TCF4. Expanded CUG repeat RNA colocalize with splicing factor, muscleblind-like 1 (MBNL1), in nuclear foci in endothelium as a molecular hallmark. Myotonic dystrophy type 1 (DM1) is a neuromuscular disorder caused by a CTG repeat expansion in the 3'-untranslated region (UTR) of DM...
متن کاملFuchs' Endothelial and Myotonic Dystrophies: Corneal Dystrophy in Myotonic Patients.
We read with great interest the article by Mootha et al. concerning a possible correlation between Fuchs’ endothelial corneal dystrophy (FECD) and myotonic dystrophy (MD). We thank the authors because, among the studies we made trying to understand the reason of low intraocular pressure in patients with MD, they cited one study we published in 2010 where we examined the endothelial cells charac...
متن کاملCorneal endothelial cell apoptosis in patients with Fuchs' dystrophy.
PURPOSE To investigate whether apoptosis plays a notable role in degeneration of corneal endothelial cells in patients with Fuchs' dystrophy. METHODS Forty-seven corneal buttons from 41 patients with Fuchs' dystrophy were studied. Nucleus labeling, transmission electron microscopy (TEM), and TdT-dUTP terminal nick-end labeling (TUNEL) were used to detect apoptosis. TEM and TUNEL were performe...
متن کاملSLC4A11 mutations in Fuchs endothelial corneal dystrophy.
The endothelial (posterior) corneal dystrophies, which result from primary endothelial dysfunction, include Fuchs endothelial corneal dystrophy (FECD), posterior polymorphous corneal dystrophy (PPCD) and congenital hereditary endothelial dystrophy (CHED). Mutations in SLC4A11 gene have been recently identified in patients with recessive CHED (CHED2). In this study, we show that heterozygous mut...
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ژورنال
عنوان ژورنال: Investigative Opthalmology & Visual Science
سال: 2017
ISSN: 1552-5783
DOI: 10.1167/iovs.17-22350