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Ophthalmic Genetics Volume 31, 2010 - Issue 4
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Original Article

Variable ocular phenotypes of posterior polymorphous corneal dystrophy caused by mutations in the ZEB1 gene

Petra LiskovaLaboratory of the Biology and Pathology of the Eye, Institute of Inherited Metabolic Disorders, and Department of Ophthalmology, First Faculty of Medicine, Charles University in Prague and General Teaching Hospital in Prague, Czech RepublicCorrespondence[email protected]
,
Martin FilipecLexum European Eye Clinic, Czech Republic
,
Stanislava MerjavaLaboratory of the Biology and Pathology of the Eye, Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General Teaching Hospital in Prague, Czech Republic
,
Katerina JirsovaLaboratory of the Biology and Pathology of the Eye, Institute of Inherited Metabolic Disorders, and Ocular Tissue Bank, General Teaching Hospital and First Faculty of Medicine, Charles University in Prague, Czech Republic
&
Stephen J. TuftMoorfields Eye Hospital NHS Foundation Trust, London, UK
Pages 230-234 | Received 21 Apr 2010, Accepted 19 Aug 2010, Published online: 11 Nov 2010

Citations (23)

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Kathryn P Burdon & Andrea L Vincent. (2013) Insights into keratoconus from a genetic perspective. Clinical and Experimental Optometry 96:2, pages 146-154.
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Articles from other publishers (22)

Tatiana Romanovna Tsedilina, Elena Sharova, Valeriia Iakovets & Liubov Olegovna Skorodumova. (2023) Systematic review of SLC4A11, ZEB1, LOXHD1, and AGBL1 variants in the development of Fuchs’ endothelial corneal dystrophy. Frontiers in Medicine 10.
Crossref
Abdelrahman M. Elhusseiny & Hajirah N. Saeed. (2022) Posterior Polymorphous Corneal Dystrophy in a Pediatric Population. Cornea 41:6, pages 734-739.
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Glenn C. Cockerham, Kenneth R. Kenyon & Peter S. Hersh. 2022. Albert and Jakobiec's Principles and Practice of Ophthalmology. Albert and Jakobiec's Principles and Practice of Ophthalmology 555 643 .
Lubica Dudakova, Viktor Stranecky, Lenka Piherova, Tomas Palecek, Nikolas Pontikos, Stanislav Kmoch, Pavlina Skalicka, Manuela Vaneckova, Alice E. Davidson & Petra Liskova. (2021) Non-Penetrance for Ocular Phenotype in Two Individuals Carrying Heterozygous Loss-of-Function ZEB1 Alleles. Genes 12:5, pages 677.
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Glenn C. Cockerham, Kenneth R. Kenyon & Peter S. Hersh. 2020. Albert and Jakobiec's Principles and Practice of Ophthalmology. Albert and Jakobiec's Principles and Practice of Ophthalmology 1 89 .
Yu Qiang Soh, Viridiana Kocaba, Jayne S. Weiss, Ula V. Jurkunas, Shigeru Kinoshita, Anthony J. Aldave & Jodhbir S. Mehta. (2020) Corneal dystrophies. Nature Reviews Disease Primers 6:1.
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Lubica Dudakova, Pavlina Skalicka, Alice E. Davidson & Petra Liskova. (2019) Coincidental Occurrence of Schnyder Corneal Dystrophy and Posterior Polymorphous Corneal Dystrophy Type 3. Cornea 38:6, pages 758-760.
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Lubica Dudakova, Cerys J. Evans, Nikolas Pontikos, Nathaniel J. Hafford-Tear, Frantisek Malinka, Pavlina Skalicka, Ales Horinek, Francis L. Munier, Nathalie Voide, Pavel Studeny, Lucia Vanikova, Tomas Kubena, Karla E. Rojas Lopez, Alice E. Davidson, Alison J. Hardcastle, Stephen J. Tuft & Petra Liskova. (2019) The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis. Experimental Eye Research 182, pages 160-166.
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Sarah Moussa, Günther Grabner, Josef Ruckhofer, Marie Dietrich & Herbert Reitsamer. (2017) Genetics in Keratoconus – What is New?. The Open Ophthalmology Journal 11:1, pages 201-210.
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Hyun Sun Jeon & Joon Young Hyon. (2017) Unilateral Posterior Polymorphous Corneal Dystrophy Presented as Anisometropic Astigmatism: 3 Case Reports. Case Reports in Ophthalmology 8:1, pages 250-258.
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Andrea Stadnikova, Lubica Dudakova, Pavlina Skalicka, Zdenek Valenta, Martin Filipec & Katerina Jirsova. (2017) Active transforming growth factor-β2 in the aqueous humor of posterior polymorphous corneal dystrophy patients. PLOS ONE 12:4, pages e0175509.
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Arkasubhra Ghosh, Nallathambi Jeyabalan, Rohit Shetty & Rajiv R. Mohan. 2017. Advances in Vision Research, Volume I. Advances in Vision Research, Volume I 363 374 .
Yelena Bykhovskaya, Benjamin Margines & Yaron S. Rabinowitz. (2016) Genetics in Keratoconus: where are we?. Eye and Vision 3:1.
Crossref
Petra Liskova, Cerys J Evans, Alice E Davidson, Marketa Zaliova, Lubica Dudakova, Marie Trkova, Viktor Stranecky, Nicole Carnt, Vincent Plagnol, Andrea L Vincent, Stephen J Tuft & Alison J Hardcastle. (2015) Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3. European Journal of Human Genetics 24:7, pages 985-991.
Crossref
Khrishen Cunnusamy, Charles B. Bowman, Walter Beebe, Xin Gong, R. Nick Hogan & V. Vinod Mootha. (2016) Congenital Corneal Endothelial Dystrophies Resulting From Novel De Novo Mutations. Cornea 35:2, pages 281-285.
Crossref
Banu Bozkurt, Fehmi Ozkan, Mevlut Yilmaz & Suleyman Okudan. (2015) Posterior Corneal Steepening in Posterior Polymorphous Corneal Dystrophy. Optometry and Vision Science 92:11, pages e414-e419.
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Petra Liskova, Lubica Dudakova, Vladimir Tesar, Vladimira Bednarova, Jana Kidorova, Katerina Jirsova, Alice E. Davidson & Alison J. Hardcastle. (2015) Detailed Assessment of Renal Function in a Proband with Harboyan Syndrome Caused by a Novel Homozygous <b><i>SLC4A11 </i></b>Nonsense Mutation. Ophthalmic Research 53:1, pages 30-35.
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Cerys J. Evans, Petra Liskova, Lubica Dudakova, Pavlina Hrabcikova, Ales Horinek, Katerina Jirsova, Martin Filipec, Alison J. Hardcastle, Alice E. Davidson & Stephen J. Tuft. (2015) Identification of Six Novel Mutations in ZEB1 and Description of the Associated Phenotypes in Patients with Posterior Polymorphous Corneal Dystrophy 3 . Annals of Human Genetics 79:1, pages 1-9.
Crossref
Ágnes Kriszt, Gergely Losonczy, András Berta, György Vereb & Lili Takács. (2014) Segregation analysis suggests that keratoconus is a complex non‐mendelian disease. Acta Ophthalmologica 92:7.
Crossref
Khaled K. Abu-Amero, Abdulrahman M. Al-Muammar & Altaf A. Kondkar. (2014) Genetics of Keratoconus: Where Do We Stand?. Journal of Ophthalmology 2014, pages 1-11.
Crossref
R. Krishna Sanka, Elmer Tu & Joel Sugar. 2013. Emery and Rimoin's Principles and Practice of Medical Genetics. Emery and Rimoin's Principles and Practice of Medical Genetics 1 29 .
Thore Schmedt, Mariana Mazzini Silva, Alireza Ziaei & Ula Jurkunas. (2012) Molecular bases of corneal endothelial dystrophies. Experimental Eye Research 95:1, pages 24-34.
Crossref

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