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Aniridia [PDF]

European Journal of Human Genetics, 2012
Aniridia is a rare congenital disorder in which there is a variable degree of hypoplasia or the absence of iris tissue associated with multiple other ocular changes, some present from birth and some arising progressively over time. Most cases are associated with dominantly inherited mutations or deletions of the PAX6 gene.
V Van Heyningen
exaly   +4 more sources

Effect of Ritanserin and Duloxetine on the Gene Expression of Primary Aniridia and Healthy Human Limbal Stromal Cells, In Vitro [PDF]

Ophthalmology and Therapy
Introduction In congenital aniridia caused by mutations in paired box 6 (PAX6), PAX6 influences the migration and differentiation of limbal epithelial cells (LECs), thereby playing a pivotal role in aniridia-associated keratopathy.
Zhen Li, Nóra Szentmáry, Fabian N. Fries, Shweta Suiwal, Ning Chai, Berthold Seitz, Lei Shi, Maryam Amini, Tanja Stachon   +8 more
doaj   +2 more sources

Patient-Derived Immortalized Limbal Epithelial Cells as In Vitro Models of Congenital Aniridia [PDF]

Cells
Purpose: To establish and comprehensively characterize immortalized limbal epithelial cell lines derived from patients with PAX6 haploinsufficiency-associated congenital aniridia, as well as from a healthy donor.
Tanja Stachon, Shweta Suiwal, Virendra Kumar, Tobias May, Frank Schmitz, Maryam Amini, Fabian N. Fries, Berthold Seitz, Shao-Lun Hsu, Shuailin Li, Shanhe Liu, Swarnali Kundu, Nicole Ludwig, Nóra Szentmáry   +13 more
doaj   +2 more sources

Scleral fixation of brown diaphragm intraocular lens in cases of posttraumatic aniridia with aphakia

Journal of Clinical Ophthalmology and Research, 2019
Traumatic aniridia is a devastating complication of penetrating ocular injuries. Aniridia associated with aphakia can be treated with standard intraocular lens (IOL) implantation with or without scleral fixation; however, the problem of photophobia and ...
Ronel Soibam, Pritam Bawankar, Harsha Bhattacharjee, Krati Gupta   +3 more
doaj   +2 more sources

Comprehensive Analysis of Congenital Aniridia and Differential Diagnoses: Genetic Insights and Clinical Manifestations [PDF]

Ophthalmology and Therapy
Introduction Congenital aniridia (CA) is a severe and complex disorder involving the entire eye, primarily characterized by iris anomalies alongside other clinical features that pose significant risks to vision.
Jonathan Hall, Marta Corton, Fabian Norbert Fries, Jessica Obst, Clara Grünauer-Kloevekorn, Berthold Seitz, Maria della Volpe Waizel, Eszter Jávorszky, Kálmán Tory, Erika Maka, Maryam Amini, Shweta Suiwal, Tanja Stachon, Nóra Szentmáry   +13 more
doaj   +2 more sources

Gene expression study in the siRNA based aniridia cell model and in primary aniridia limbal epithelial cells following duloxetine and ritanserin treatment. [PDF]

PLoS ONE
Progressive aniridia associated keratopathy is worsening visual acuity of congenital aniridia subjects lifelong. Restoration of PAX6 expression in PAX6 haploinsufficient limbal epithelial cells could be one therapeutic option.
Shweta Suiwal, Tanja Stachon, Zhen Li, Marta Corton, Mahsa Nastaranpour, Ning Chai, Maryam Amini, Berthold Seitz, Fabian N Fries, Thomas Tschernig, Nóra Szentmáry   +10 more
doaj   +2 more sources

Outcomes of Trabeculectomy and Glaucoma Drainage Device Surgery in Congenital Aniridia-Associated Glaucoma: A Systematic Review and Meta-Analysis [PDF]

Ophthalmology and Therapy
Introduction This study aimed to compare the surgical outcomes of trabeculectomy and glaucoma drainage device (GDD) implantation in patients with congenital aniridia.
Gábor Tóth, Shanhe Liu, Shuailin Li, Szilárd Váncsa, Mátyás Paczkó, Tamás Kói, Péter Hegyi, Nóra Szentmáry   +7 more
doaj   +2 more sources

mRNA Sequencing of Limbal Epithelial Cells and mRNA/miRNA Profiling of Limbal Stromal Cells in PAX6-Related Congenital Aniridia [PDF]

Cells
The dysfunction of limbal epithelial cells (LECs) and limbal stromal cells (LSCs) in congenital aniridia remains incompletely understood. We aimed to analyze mRNA expression profiles of primary human LECs and LSCs, as well as microRNA (miRNA) expression ...
Tanja Stachon, Shweta Suiwal, Maryam Amini, Marta Corton, Fabian Norbert Fries, Berthold Seitz, Nicole Ludwig, Shusruto Rishik, Andreas Keller, Nóra Szentmáry   +9 more
doaj   +2 more sources

Genetic analysis using next-generation sequencing and multiplex ligation probe amplification in Chinese aniridia patients [PDF]

Orphanet Journal of Rare Diseases
Background Congenital aniridia is a rare pan-ocular disease characterized by complete irideremia, partial iridocoloboma. The progressive nature of aniridia is frequently accompanied by secondary ocular complications such as glaucoma and aniridia ...
Li Wang, Qingdan Xu, Wentao Wang, Xinghuai Sun, Yuhong Chen   +4 more
doaj   +2 more sources

Systemic Diseases in Patients with Congenital Aniridia: A Report from the Homburg Registry for Congenital Aniridia [PDF]

Ophthalmology and Therapy
Introduction Congenital aniridia is increasingly recognized as part of a complex syndrome with numerous ocular developmental anomalies and non-ocular systemic manifestations. This requires comprehensive care and treatment of affected patients.
Jessica Obst, Fabian N. Fries, Maryam Amini, Annamária Náray, Cristian Munteanu, Tanja Stachon, Shweta Suiwal, Neil Lagali, Berthold Seitz, Barbara Käsmann-Kellner, Nóra Szentmáry   +10 more
doaj   +2 more sources