Polymorphous corneal dystrophy

Common Name(s)

Polymorphous corneal dystrophy

Posterior polymorphous corneal dystrophy (PPCD) is a rare disorder involving metaplasia and overgrowth of corneal endothelial cells ({9:Krafchak et al., 2005}). In patients with PPCD, these cells manifest in an epithelial morphology and gene expression pattern, produce an aberrant basement membrane, and, sometimes, spread over the iris and nearby structures in a way that increases the risk for glaucoma. Symptoms can range from very aggressive to asymptomatic and nonprogressive, even within the same family. The age of diagnosis is, most often, in the second or third decade of life. Genetic Heterogeneity of Posterior Polymorphous Corneal Dystrophy Other forms of PPCD include PPCD2 ({609140}), caused by mutation in the COL8A2 gene ({120252}) on chromosome 1p34.3, and PPCD3 ({609141}), caused by mutation in the ZEB1 gene ({189909}) on chromosome 10p.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Polymorphous corneal dystrophy" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Polymorphous corneal dystrophy" returned 18 free, full-text research articles on human participants. First 3 results:

Exclusion of pathogenic promoter region variants and identification of novel nonsense mutations in the zinc finger E-box binding homeobox 1 gene in posterior polymorphous corneal dystrophy.
 

Author(s): Pejman Bakhtiari, Ricardo F Frausto, Ashley N Roldan, Cynthia Wang, Fei Yu, Anthony J Aldave

Journal: Mol. Vis.. 2013 ;19():575-80.

 

To report the identification of five novel nonsense mutations in the zinc finger E-box binding homeobox 1 (ZEB1) gene and exclusion of promoter region mutations in individuals without ZEB1 coding region mutations in posterior polymorphous corneal dystrophy (PPCD).

Last Updated: 5 Apr 2013

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High prevalence of posterior polymorphous corneal dystrophy in the Czech Republic; linkage disequilibrium mapping and dating an ancestral mutation.
 

Author(s): Petra Liskova, Rhian Gwilliam, Martin Filipec, Katerina Jirsova, Stanislava Reinstein Merjava, Panos Deloukas, Tom R Webb, Shomi S Bhattacharya, Neil D Ebenezer, Alex G Morris, Alison J Hardcastle

Journal: PLoS ONE. 2012 ;7(9):e45495.

 

Posterior polymorphous corneal dystrophy (PPCD) is a rare autosomal dominant genetically heterogeneous disorder. Nineteen Czech PPCD pedigrees with 113 affected family members were identified, and 17 of these kindreds were genotyped for markers on chromosome 20p12.1- 20q12. Comparison ...

Last Updated: 10 Oct 2012

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Descemet membrane endothelial keratoplasty with a stromal rim in the treatment of posterior polymorphous corneal dystrophy.
 

Author(s): Pavel Studeny, Katerina Jirsova, Pavel Kuchynka, Petra Liskova

Journal: Indian J Ophthalmol. ;60(1):59-60.

 

A 20-year-old patient, diagnosed with posterior polymorphous corneal dystrophy, developed corneal edema for which he underwent Descemet membrane endothelial keratoplasty with a stromal rim (DMEK-S) in the right eye. No intra- or postoperative complications were noted. At the last ...

Last Updated: 5 Jan 2012

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Reviews from the PubMed Database

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The terms "Polymorphous corneal dystrophy" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Study of Endothelial Keratoplasty Outcomes
 

Status: Recruiting

Condition Summary: Fuchs' Endothelial Corneal Dystrophy; Bullous Keratopathy; Iridocorneal Endothelial Syndrome; Posterior Polymorphous Dystrophy

 

Last Updated: 23 Nov 2013

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Outcome After Descemet Membrane Endothelial Keratoplasty (DMEK) and Ultra-thin Descemet Stripping Automated Endothelial Keratoplasty (DSAEK)
 

Status: Recruiting

Condition Summary: Fuchs' Endothelial Corneal Dystrophy; Bullous Keratopathy; Iridocorneal Endothelial Syndrome; Posterior Polymorphous Dystrophy; Endothelial Dysfunction

 

Last Updated: 18 Dec 2013

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