Results 1 to 10 of about 7,292 (198)

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   +5 more sources

A novel microdeletion of 517 kb downstream of the PAX6 gene in a Chinese family with congenital aniridia [PDF]

BMC Ophthalmology, 2023
Background To identify the disease-causing gene in a Chinese family affected with congenital aniridia. Methods Patients underwent systematic ophthalmic examinations such as anterior segment photography, fundus photography, optical coherence tomography ...
Yinwen Li, Jieqiong Chen, Ying Zheng, Zhixuan Chen, Tao Wang, Qian Sun, Xiaoling Wan, Haiyun Liu, Xiaodong Sun   +8 more
doaj   +2 more sources

Congenital aniridia: European COST action ANIRIDIA-NET guidelines for diagnosis, management and care. [PDF]

Acta Ophthalmol
Abstract Congenital aniridia is a rare ocular disorder affecting the majority of eye structures and can be associated with systemic manifestations. The main visible phenotypic characteristic is the partial or complete absence of the iris; however, foveal hypoplasia is a more frequent and reliable clinical sign. Other ocular comorbidities are associated
Romano D, Romano V, Daruich A, Ferrari G, Robert M, Semeraro F, Lagali N, Bremond-Gignac D, ANIRIDIA‐NET Clinical Guidelines Working Group, Aniridia‐Europa and Geniris Working Group.   +9 more
europepmc   +2 more sources

Clinical and molecular aspects of congenital aniridia – A review of current concepts [PDF]

Indian Journal of Ophthalmology, 2022
Congenital aniridia is a pan ocular disorder characterized by partial or total loss of iris tissue as the defining feature. Classic aniridia, however, has a spectrum of ocular findings, including foveal hypoplasia, optic nerve hypoplasia, nystagmus, late-
Shailja Tibrewal, Ria Ratna, Abha Gour, Sumita Agarkar, Suneeta Dubey, Suma Ganesh, Ramesh Kekunnaya, Virender Sangwan, Yutao Liu, Vanita Vanita   +9 more
doaj   +2 more sources

Descemet Stripping Endothelial Keratoplasty for Congenital Aniridia: An Interesting and Challenging Story [PDF]

Türk Oftalmoloji Dergisi, 2022
Congenital aniridia is a rare condition affecting a wide range of ocular structures, from the ocular surface to the retina. We present the case of a 59-year-old woman with PAX6- and WT1-negative congenital aniridia who developed aniridia-associated ...
Ioannis Athanasiadis, Michael Tsatsos, Nikolaos Ziakas   +2 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

A novel 4.25 kb heterozygous deletion in PAX6 in a Chinese Han family with congenital aniridia combined with cataract and nystagmus [PDF]

BMC Ophthalmology, 2021
Background The aim of this study is to identify the genetic defect in a Chinese family with congenital aniridia combined with cataract and nystagmus.
Tianwei Qian, Chong Chen, Caihua Li, Qiaoyun Gong, Kun Liu, Gao Wang, Isabelle Schrauwen, Xun Xu   +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

Novel clinical presentation and PAX6 mutation in families with congenital aniridia [PDF]

Frontiers in Medicine, 2022
PurposeTo explore the clinical phenotype and genetic defects of families with congenital aniridia.MethodsFour Chinese families with aniridia were enrolled in this study. The detailed ocular presentations of the patients were recorded.
Ruru Guo, Xiaotian Zhang, Xiaotian Zhang, Aihua Liu, Jian Ji, Wei Liu   +5 more
doaj   +2 more sources

Clinical outcomes and visual prognostic factors in congenital aniridia [PDF]

BMC Ophthalmology, 2022
Background Evaluate outcomes and identify prognostic factors in congenital aniridia. Methods Retrospective interventional case series of patients with congenital aniridia treated between 2012–2020.
Adam Jacobson, Shahzad I. Mian, Brenda L. Bohnsack   +2 more
doaj   +2 more sources