Research & Literature
Explore the leading researchers and institutions driving advances in this area, and dive into the full body of literature that informs this resource.
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Broad Institute
Cambridge, United States
BGI Group (China)
Shenzhen, China
National Institutes of Health
Bethesda, United States
European Bioinformatics Institute
Cambridge, United Kingdom
Baylor College of Medicine
Houston, United States
Diabetes Australia
Canberra, Australia
Wellcome Sanger Institute
Cambridge, United Kingdom
University of Michigan
Ann Arbor, United States
Centre for Human Genetics
Oxford, United Kingdom
University of Washington
Seattle, United States
References
References (53)
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Long-Term Observation of Coexistence of Posterior Polymorphous Corneal Dystrophy, Resultant High Myopia and Nonkeratoconic Developing Corneal Astigmatism: A Case Report of 7-Year Tracking in a Chinese Boy.
Shen J, Chixin D, Gu Y
Medicine 2015; (94(23)):e921 doi:10.1097/MD.0000000000000921.
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Posterior Corneal Steepening in Posterior Polymorphous Corneal Dystrophy.
Bozkurt B, Ozkan F, Yilmaz M, Okudan S
Optometry and vision science : official publication of the American Academy of Optometry 2015; (92(11)):e414-9 doi:10.1097/OPX.0000000000000714.
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Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3.
Liskova P, Evans CJ, Davidson AE, et al.
European journal of human genetics : EJHG 2016; (24(7)):985-91 doi:10.1038/ejhg.2015.232.
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Contact lens fitting in a patient with Alport syndrome and posterior polymorphous corneal dystrophy: a case report.
Rosa JM, Andrade Sobrinho MV, Lipener C
Arquivos brasileiros de oftalmologia 2016; (79(1)):42-3.
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GRHL2-miR-200-ZEB1 maintains the epithelial status of ovarian cancer through transcriptional regulation and histone modification.
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Scientific reports 2016; (6()):19943 doi:10.1038/srep19943.
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[Fuchs endothelial corneal dystrophy and trinucleotide repeat expansion in TCF4--implications for diagnostics and therapy].
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In vivo confocal microscopic observations of eyes diagnosed with posterior corneal vesicles.
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Japanese journal of ophthalmology 2016; (60(6)):425-432 doi:10.1007/s10384-016-0473-x.
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Clinical Features in Children with Posterior Polymorphous Corneal Dystrophy.
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Optometry and vision science : official publication of the American Academy of Optometry 2017; (94(4)):476-481 doi:10.1097/OPX.0000000000001039.
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Unilateral Posterior Polymorphous Corneal Dystrophy Presented as Anisometropic Astigmatism: 3 Case Reports.
Jeon HS, Hyon JY
Case reports in ophthalmology 2017; (8(1)):250-258 doi:10.1159/000472704.
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Graft versus host disease: what should the oculoplastic surgeon know?
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Retinal pathology in the PPCD1 mouse.
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Endothelial keratoplasty for posterior polymorphous corneal dystrophy in a 4-month-old infant.
Hermina Strungaru M, Ali A, Rootman D, Mireskandari K
American journal of ophthalmology case reports 2017; (7()):23-26 doi:10.1016/j.ajoc.2017.05.001.
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The iridocorneal endothelial syndrome.
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Five-Year Graft Survival of Descemet Membrane Endothelial Keratoplasty (EK) versus Descemet Stripping EK and the Effect of Donor Sex Matching.
Price DA, Kelley M, Price FW, Price MO
Ophthalmology 2018; (125(10)):1508-1514 doi:10.1016/j.ophtha.2018.03.050.
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Descemet's membrane endothelial keratoplasty (DMEK) versus Descemet's stripping automated endothelial keratoplasty (DSAEK) for corneal endothelial failure.
Stuart AJ, Romano V, Virgili G, Shortt AJ
The Cochrane database of systematic reviews 2018; (6()):CD012097 doi:10.1002/14651858.CD012097.pub2.
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Descemet membrane endothelial keratoplasty in iridocorneal endothelial syndrome and posterior polymorphous corneal dystrophy.
Sorkin N, Einan-Lifshitz A, Boutin T, et al.
Canadian journal of ophthalmology. Journal canadien d'ophtalmologie 2019; (54(2)):190-195 doi:10.1016/j.jcjo.2018.05.012.
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Outcome of Descemet membrane endothelial keratoplasty for graft failure after Descemet stripping automated endothelial keratoplasty.
Agha B, Shajari M, Slavik-Lencova A, et al.
Clinical ophthalmology (Auckland, N.Z.) 2019; (13()):553-559 doi:10.2147/OPTH.S194185.
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Ultrathin Descemet stripping automated endothelial keratoplasty.
Durrani AF, Faith SC, Jhanji V
Current opinion in ophthalmology 2019; (30(4)):264-270 doi:10.1097/ICU.0000000000000575.
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Alterations in GRHL2-OVOL2-ZEB1 axis and aberrant activation of Wnt signaling lead to altered gene transcription in posterior polymorphous corneal dystrophy.
Chung DD, Zhang W, Jatavallabhula K, et al.
Experimental eye research 2019; (188()):107696 doi:10.1016/j.exer.2019.107696.
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Five-Year Outcomes of Ultrathin Descemet Stripping Automated Endothelial Keratoplasty.
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Cornea 2019; (38(9)):1192-1197 doi:10.1097/ICO.0000000000001999.
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Don't Miss This! Red Flags in the Pediatric Eye Examination: Introduction and Essential Concepts.
Christiansen SP
Journal of binocular vision and ocular motility 2019; (69(3)):87-89 doi:10.1080/2576117X.2019.1582290.
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Comparison of Descemet Stripping Automated Endothelial Keratoplasty and Descemet Membrane Endothelial Keratoplasty in the Treatment of Failed Penetrating Keratoplasty.
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Cornea 2019; (38(9)):1077-1082 doi:10.1097/ICO.0000000000001993.
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The rising incidence of Acanthamoeba keratitis: A 7-year nationwide survey and clinical assessment of risk factors and functional outcomes.
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OVOL2-Mediated ZEB1 Downregulation May Prevent Promotion of Actinic Keratosis to Cutaneous Squamous Cell Carcinoma.
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Journal of clinical medicine 2020; (9(3)) doi:10.3390/jcm9030618.
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The Curious Case of ZEB1.
Madany M, Thomas T, Edwards LA
Discoveries (Craiova, Romania) 2018; (6(4)):e86 doi:10.15190/d.2018.7.
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Molecular Mechanisms of Fuchs and Congenital Hereditary Endothelial Corneal Dystrophies.
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Reviews of physiology, biochemistry and pharmacology 2020; (178()):41-81 doi:10.1007/112_2020_39.
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Review: Optimizing DMEK Technique, 2018-2020.
Ramirez DA, Schmidt GA, Worthington KS, Sales CS
International ophthalmology clinics 2021; (61(1)):45-55 doi:10.1097/IIO.0000000000000340.
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Diseases of the corneal endothelium.
Jeang LJ, Margo CE, Espana EM
Experimental eye research 2021; (205()):108495 doi:10.1016/j.exer.2021.108495.
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Endothelial cell density in children with posterior polymorphous corneal dystrophy: a longitudinal case-control study.
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Eye (London, England) 2021; (35(12)):3397-3403 doi:10.1038/s41433-021-01451-y.
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Genetic mutations and molecular mechanisms of Fuchs endothelial corneal dystrophy.
Liu X, Zheng T, Zhao C, et al.
Eye and vision (London, England) 2021; (8(1)):24 doi:10.1186/s40662-021-00246-2.
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c.-61G>A in OVOL2 is a Pathogenic 5' Untranslated Region Variant Causing Posterior Polymorphous Corneal Dystrophy 1.
Janeschitz-Kriegl L, Kamdar D, Quinodoz M, et al.
Cornea 2022; (41(1)):89-94 doi:10.1097/ICO.0000000000002843.
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Posterior Polymorphous Corneal Dystrophy in a Pediatric Population.
Elhusseiny AM, Saeed HN
Cornea 2022; (41(6)):734-739 doi:10.1097/ICO.0000000000002847.
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Pediatric endothelial keratoplasty: a systematic review and individual participant data meta-analysis.
Mohebbi M, Mehrpour M, Sanij AD, et al.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2022; (260(4)):1069-1082 doi:10.1007/s00417-021-05459-8.
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[Imaging features of posterior polymorphous corneal dystrophy observed by in vivo confocal microscopy].
Gu SF, Peng RM, Xiao GG, Hong J
[Zhonghua yan ke za zhi] Chinese journal of ophthalmology 2022; (58(2)):103-111 doi:10.3760/cma.j.cn112142-20210228-00099.
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Posterior corneal vesicles are not associated with the genetic variants that cause posterior polymorphous corneal dystrophy.
Liskova P, Hafford-Tear NJ, Skalicka P, et al.
Acta ophthalmologica 2022; (100(7)):e1426-e1430 doi:10.1111/aos.15114.
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Bilateral posterior lamellar corneal transplant surgery in an infant of 17 weeks old: Surgical challenges and the added value of intraoperative optical coherence tomography.
Muijzer MB, Kroes HY, van Hasselt PM, Wisse RPL
Clinical case reports 2022; (10(4)):e05637 doi:10.1002/ccr3.5637.
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Differential Diagnosis of Keratoconus Based on New Technologies.
Sideroudi H, Flockerzi E, Seitz B
Klinische Monatsblatter fur Augenheilkunde 2023; (240(1)):57-72 doi:10.1055/a-1920-6929.
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Incomplete Penetrance and Variable Expressivity: From Clinical Studies to Population Cohorts.
Kingdom R, Wright CF
Frontiers in genetics 2022; (13()):920390 doi:10.3389/fgene.2022.920390.
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Posterior Polymorphous Corneal Dystrophy in a Patient with a Novel ZEB1 Gene Mutation.
Fernández-Gutiérrez E, Fernández-Pérez P, Boto-De-Los-Bueis A, et al.
International journal of molecular sciences 2022; (24(1)) doi:10.3390/ijms24010209.
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Establishing a Virtual Corneal Clinic: A Real-Time Teleophthalmology Approach.
Siregar SR, Ardiani LS, Chua A, et al.
Cornea 2023; (42(3)):376-382 doi:10.1097/ICO.0000000000003212.
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Loss-of-function variants in ZEB1 cause dominant anomalies of the corpus callosum with favourable cognitive prognosis.
Heide S, Argilli E, Valence S, et al.
Journal of medical genetics 2024; (61(3)):244-249 doi:10.1136/jmg-2023-109293.
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Mediators of Visual Acuity in Descemet Membrane Endothelial Keratoplasty and Ultrathin Descemet Stripping Automated Endothelial Keratoplasty.
Lin CC, Chamberlain WD, Kakigi C, et al.
Cornea 2024; (43(7)):853-859 doi:10.1097/ICO.0000000000003434.
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Updates on congenital hereditary endothelial dystrophy.
Mehta N, Verma A, Achanta DS, et al.
Taiwan journal of ophthalmology 2023; (13(4)):405-416 doi:10.4103/tjo.TJO-D-23-00135.
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Corneal pseudoectasia: a case series.
Chorny A, Gershoni A, Mahler O, et al.
International ophthalmology 2024; (44(1)):17 doi:10.1007/s10792-024-02992-3.
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A Functional and Immunologic Point of View on Corneal Endothelial Transplantation: A Systematic Review and Meta-Analysis.
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Journal of clinical medicine 2024; (13(12)) doi:10.3390/jcm13123431.
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Prevalence of limbal stem cell deficiency at an academic referral center over a two-year period.
Goldberg JS, Fraser DJ, Hou JH
Frontiers in ophthalmology 2024; (4()):1392106 doi:10.3389/fopht.2024.1392106.
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Poor intraoperative visibility and postoperative astigmatism associated with trabecular micro-bypass stent for corneal dystrophy: A case report.
Nakagawa S, Ishii K
Medicine 2024; (103(31)):e39211 doi:10.1097/MD.0000000000039211.
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Assessing Corneal Tomographic Changes in Fuchs Endothelial Corneal Dystrophy Over 1 Year: Scheimpflug Versus Anterior Segment Optical Coherence Tomography.
Dorado Cortez O, Fleischmann Caruso D, Crouzet E, et al.
Cornea 2024; (44(9)):1127-1135 doi:10.1097/ICO.0000000000003771.
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Familial Steep Corneas in Posterior Polymorphous Corneal Dystrophy 3 Due to a Novel ZEB1 Gene Mutation.
Koval T, Banne E, Neimark E, Spierer O
Cornea 2025; (44(12)):1515-1520 doi:10.1097/ICO.0000000000003818.
PMID: 39879122 - 52
A Review of Outcomes of Descemet Membrane Endothelial Keratoplasty and Descemet Stripping Automated Endothelial Keratoplasty Interventions in Patients with Pre-Existing Glaucoma.
Jafari K, Ashena Z, Niestrata M
Journal of clinical medicine 2025; (14(10)) doi:10.3390/jcm14103534.
PMID: 40429529 - 53
Reduced quality of life in corneal dystrophy - a prospective case control study.
Elhardt C, Aamoon AZ, Hartmann LM, et al.
BMC ophthalmology 2025; (25(1)):341 doi:10.1186/s12886-025-04200-x.
PMID: 40537778