Cornea Fuchs’ Endothelial Corneal Dystrophy and RNA Foci in Patients With Myotonic Dystrophy
نویسندگان
چکیده
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 Southwestern Medical Center, Dallas, Texas, United States Department of Bioinformatics, University of Texas Southwestern Medical Center, Dallas, Texas, United States Department of Clinical Sciences, University of Texas Southwestern Medical Center, Dallas, Texas, United States
منابع مشابه
Fuchs' 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 کاملThe role of apoptosis in the pathogenesis of Fuchs endothelial dystrophy of the cornea.
OBJECTIVE To investigate the potential role of apoptosis in the pathogenesis of Fuchs endothelial dystrophy of the cornea. METHODS Twenty-one corneal buttons from patients with Fuchs dystrophy and 15 control corneas were studied. Apoptosis was assessed by the in situ end-labeling of double-stranded DNA breaks, and by immunohistochemical characterization of cellular markers associated with apo...
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 کاملA morphologic study of Fuchs dystrophy and bullous keratopathy.
PURPOSE To describe the morphologic features of Fuchs corneal dystrophy and compare them with those of bullous keratopathy. METHODS This was an observational case series. The study group consisted of 32 corneal buttons with a diagnosis of Fuchs dystrophy and the comparison group consisted of 22 corneal buttons with bullous keratopathy. Morphologic analysis was performed of corneal buttons fro...
متن کاملCongenital Hereditary Endothelial Dystrophy Caused by SLC4A11 Mutations Progresses to Harboyan Syndrome
PURPOSE Homozygous mutations in SLC4A11 cause 2 rare recessive conditions: congenital hereditary endothelial dystrophy (CHED), affecting the cornea alone, and Harboyan syndrome consisting of corneal dystrophy and sensorineural hearing loss. In addition, adult-onset Fuchs endothelial corneal dystrophy (FECD) is associated with dominant mutations in SLC4A11. In this report, we investigate whether...
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