Replication and refinement of linkage of posterior polymorphous corneal dystrophy to the posterior polymorphous corneal dystrophy 1 locus on chromosome 20
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چکیده
منابع مشابه
Transcriptomic Profiling of Posterior Polymorphous Corneal Dystrophy
Purpose To investigate the molecular basis of posterior polymorphous corneal dystrophy (PPCD) by examining the PPCD transcriptome and the effect of decreased ZEB1 expression on corneal endothelial cell (CEnC) gene expression. Methods Next-generation RNA sequencing (RNA-seq) analyses of corneal endothelium from two PPCD-affected individuals (one with PPCD3 and one of unknown genetic cause) com...
متن کاملPosterior Corneal Steepening in Posterior Polymorphous Corneal Dystrophy.
PURPOSE The aim was to evaluate the anterior and posterior corneal topographic characteristics of three patients with posterior polymorphous corneal dystrophy (PPCD) using a rotating Scheimpflug camera combined with a Placido disc system (Sirius, CSO, Italy). CASE REPORTS Two children with unilateral PPCD and a 53-year-old woman with bilateral PPCD were diagnosed by the presence of vesicles a...
متن کاملEpithelialization of the corneal endothelium in posterior polymorphous dystrophy.
The unusual cell type present on the posterior corneal surface of posterior polymorphous dystrophy patients has been characterized. In addition to microvilli and desmosomes, these cells contain abundant 10 nm filaments which by immunofluorescent staining were shown to consist of keratin proteins, a marker for epithelial cells.
متن کاملClinical Findings and Review of Posterior Polymorphous Corneal Dystrophy
The purpose of present study is to discuss the clinical findings and management options of posterior polymorphous corneal dystrophy and to review the current literature on this rare entity. We report a case of asymptomatic posterior polymorphous corneal dystrophy. Posterior polymorphous corneal dystrophy is a rare, familial clinical entity with subtle findings that are important to recognize, a...
متن کاملA locus for posterior polymorphous corneal dystrophy (PPCD3) maps to chromosome 10.
Posterior polymorphous corneal dystrophy (PPCD) is an autosomal dominant disorder characterized by corneal endothelial abnormalities, which can lead to blindness due to loss of corneal transparency and sometimes glaucoma. We mapped a new locus responsible for PPCD in a family in which we excluded the previously reported PPCD locus on 20q11, and the region containing COL8A2 on chromosome 1. Resu...
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ژورنال
عنوان ژورنال: Genetics in Medicine
سال: 2007
ISSN: 1098-3600,1530-0366
DOI: 10.1097/gim.0b013e31803c4dc2