1 Posterior Polymorphous Corneal Dystrophy

Hereditary corneal dystrophy characterized by metaplasia and overgrowth of corneal endothelial cells. Symptoms can vary significantly, even within the same family. It is caused by a mutation in the OVOL2 gene. OMIM: 122000

Also Known As:

Networked: 42 relevant articles (1 outcomes, 3 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Hereditary Nephritis (Alport Syndrome)
2.	Astigmatism
3.	Corneal Edema
4.	Fuchs' Endothelial Dystrophy
5.	Iridocorneal Endothelial Syndrome

Experts

1.	Aldave, Anthony J: 12 articles (01/2021 - 04/2007)
2.	Frausto, Ricardo F: 8 articles (01/2021 - 01/2013)
3.	Chung, Doug D: 4 articles (01/2021 - 01/2017)
4.	Liskova, Petra: 4 articles (01/2020 - 05/2009)
5.	Yu, Fei: 3 articles (12/2013 - 11/2007)
6.	Rayner, Sylvia A: 3 articles (01/2012 - 04/2007)
7.	Yellore, Vivek S: 3 articles (01/2012 - 04/2007)
8.	Jirsova, Katerina: 3 articles (01/2012 - 05/2009)
9.	Barrington, Alice: 2 articles (01/2021 - 11/2019)
10.	Tuft, Stephen J: 2 articles (01/2020 - 12/2010)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to 1 Posterior Polymorphous Corneal Dystrophy:

1.	Zinc Finger E-box-Binding Homeobox 1IBA 07/01/2014 - "Posterior polymorphous corneal dystrophy (PPCD) is a dominantly inherited disorder of the corneal endothelium that has been associated with mutations in the zinc-finger E-box binding homeobox 1 gene (ZEB1) gene in approximately one-third of affected families. " 12/01/2010 - "To describe the ocular features of 6 Czech and British patients with posterior polymorphous corneal dystrophy (PPCD) caused by mutations in the zinc finger E-box binding homeobox 1 gene (ZEB1). " 09/04/2014 - "To assess the impact of zinc finger E-box binding homeobox 1 (ZEB1) gene mutations associated with posterior polymorphous corneal dystrophy 3 (PPCD3) and Fuchs' endothelial corneal dystrophy (FECD). " 11/01/2019 - "Mutations associated with posterior polymorphous corneal dystrophy (PPCD) have been identified in three genes: ZEB1 (zinc-finger E-box binding homeobox 1) associated with sub-type PPCD3; OVOL2 (ovol-like zinc finger 2) associated with sub-type PPCD1; and GRHL2 (grainyhead like transcription factor 2) associated with sub-type PPCD4. " 01/01/2016 - "To investigate the role of the zinc finger e-box binding homeobox 1 (ZEB1) transcription factor in posterior polymorphous corneal dystrophy 3 by demonstrating its ability to regulate type IV collagen gene transcription via binding to putative E2 box motifs. "
2.	Transcription Factors (Transcription Factor)IBA 09/01/2017 - "The deleted region overlaps 1 OMIM Morbid Map gene, ZEB1 (the zinc finger E-box binding homeobox transcription factor 1), previously associated with posterior polymorphous corneal dystrophy type 3 (PPCD3). " 01/01/2010 - "Here we report missense mutations in TCF8, a transcription factor whose haploinsufficiency causes posterior polymorphous corneal dystrophy (PPCD), in a cohort of late-onset FCD patients. " 11/01/2007 - "Mutations in the two-handed zinc-finger homeodomain transcription factor gene (TCF8) have been associated with posterior polymorphous corneal dystrophy (PPCD) and extraocular developmental abnormalities. " 11/01/2019 - "Mutations associated with posterior polymorphous corneal dystrophy (PPCD) have been identified in three genes: ZEB1 (zinc-finger E-box binding homeobox 1) associated with sub-type PPCD3; OVOL2 (ovol-like zinc finger 2) associated with sub-type PPCD1; and GRHL2 (grainyhead like transcription factor 2) associated with sub-type PPCD4. "
3.	CollagenIBA 03/01/2015 - "Posterior polymorphous corneal dystrophy and LCD share morphologic similarities and dysfunctions of collagen architecture in the basement membrane layer, which suggests a possible common pathogenic pathway." 05/01/2009 - "Changes in the localization of collagens IV and VIII in corneas obtained from patients with posterior polymorphous corneal dystrophy." 05/01/2008 - "The expression of all six chains of collagen IV was studied using the indirect fluorescent immunohistochemistry in seven control corneas and seven corneas obtained from patients suffering from the posterior polymorphous corneal dystrophy. " 05/01/2008 - "[Immunohistochemical characterization of collagen IV in control corneas and in corneas obtained from patients suffering from posterior polymorphous corneal dystrophy]."
4.	Nonsense Codon (Nonsense Mutation)IBA 01/01/2013 - "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). " 01/01/2013 - "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." 01/25/2012 - "To determine how nonsense mutations in the transcription factor ZEB1 lead to the development of posterior polymorphous corneal dystrophy type 3 (PPCD3). "
5.	Tuberculin (PPD)IBA 11/01/1994 - "Posterior polymorphous corneal dystrophy (PPD) is a rare bilateral, autosomal-dominant disease. " 09/01/2017 - "On postnatal follow-up she was noted to have developmental delay, facial dysmorphism, autism spectrum disorder, and posterior polymorphous corneal dystrophy (PPD). "
6.	Retinaldehyde (Retinal)IBA 01/01/2017 - "Retinal phenotypes of the PPCD1 mouse, a mouse model of posterior polymorphous corneal dystrophy, have been characterized. " 01/01/2006 - "To elucidate the retinal dysfunction and the molecular basis of posterior polymorphous corneal dystrophy (PPCD) associated with macular dystrophy, both inherited in a dominant manner through a three-generation family. "
7.	Collagen Type IV (Type IV Collagen)IBA 01/01/2016 - "To investigate the role of the zinc finger e-box binding homeobox 1 (ZEB1) transcription factor in posterior polymorphous corneal dystrophy 3 by demonstrating its ability to regulate type IV collagen gene transcription via binding to putative E2 box motifs. "
8.	Collagen Type VIIIIBA 11/01/2006 - "Exclusion of COL8A1, the gene encoding the alpha2(VIII) chain of type VIII collagen, as a candidate for Fuchs endothelial dystrophy and posterior polymorphous corneal dystrophy."
9.	5' Untranslated Regions (5' UTR)IBA 01/01/2022 - "c.-61G>A in OVOL2 is a Pathogenic 5' Untranslated Region Variant Causing Posterior Polymorphous Corneal Dystrophy 1."
10.	ZincIBA 01/01/2017 - "To investigate the functional role that the zinc e-box binding homeobox 1 (ZEB1) gene, which underlies the genetic basis of posterior polymorphous corneal dystrophy 3 (PPCD3), plays in corneal endothelial cell proliferation, apoptosis, migration, and barrier function. "

Therapies and Procedures

1.	Contact Lenses 02/01/2016 - "Contact lens fitting in a patient with Alport syndrome and posterior polymorphous corneal dystrophy: a case report." 02/01/2016 - "Here we present a case report of a 33-year-old female with Alport syndrome, posterior polymorphous corneal dystrophy, and irregular astigmatism, whose visual acuity improved with a rigid gas permeable contact lens. "
2.	Corneal Transplantation (Keratoplasty) 04/01/2022 - "This study aimed to describe the surgical challenges, management, and value of intraoperative optical coherence tomography in a case of a bilateral Descemet Stripping Automated Endothelial Keratoplasty corneal transplantation at 17 weeks of age for the treatment of severe posterior polymorphous corneal dystrophy resulting from a de novo mutation of the OVOL2-gene." 01/01/2022 - "The purpose of this study was to investigate the clinical and genetic features of a man and his daughter with posterior polymorphous corneal dystrophy (PPCD), referred to our clinic for Descemet membrane endothelial keratoplasty. " 08/04/2022 - "Descemet Membrane Endothelial Keratoplasty (DMEK) for Severe Verrucous Posterior Polymorphous Corneal Dystrophy with Uncommon Clinical and Ultrastructural Findings." 09/01/2017 - "A 4 month old infant underwent Descemet membrane endothelial keratoplasty (DMEK) for posterior polymorphous corneal dystrophy. " 09/01/2017 - "To report a case of endothelial keratoplasties (EKs) performed in a 4 month old with a posterior polymorphous corneal dystrophy. "
3.	Laser In Situ Keratomileusis (LASIK) 05/01/2021 - "Laser in situ keratomileusis was indicated in posterior polymorphous corneal dystrophy but not in FECD, Avellino, or Cogan dystrophy. " 03/01/2015 - "LASIK and PRK appear to be safe in mild forms of posterior polymorphous corneal dystrophy, whereas LASIK should be avoided in Fuchs dystrophy. "
4.	Slit Lamp 10/01/2011 - "Thirty-five eyes of 18 patients (14 cases from 6 families and 4 isolated cases) with diffuse posterior polymorphous corneal dystrophy had mean topographic simulated keratometry readings of 52.21 diopters (D), with a range of 46.47 D to 59.86 D and an SD of 3.69 D, with no slit-lamp or topographic findings suggestive of keratoconus. "
5.	Telescopes 01/01/2003 - "Medical history of misdiagnosis and subsequent wrong procedures, to which patient with binocular posterior polymorphous corneal dystrophy was exposed, where presented. "