Results 11 to 20 of about 25,639 (292)

Restoration of functional PAX6 in aniridia patient iPSC-derived ocular tissue models using repurposed nonsense suppression drugs

Molecular Therapy: Nucleic Acids, 2023
Congenital aniridia is a rare, pan-ocular disease causing severe sight loss, with only symptomatic intervention offered to patients. Approximately 40% of aniridia patients present with heterozygous nonsense variants in PAX6, resulting in ...
Dulce Lima Cunha, Hajrah Sarkar, Jonathan Eintracht, Philippa Harding, Jo Huiqing Zhou, Mariya Moosajee   +5 more
doaj   +2 more sources

Novel clinical presentation and PAX6 mutation in families with congenital aniridia

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

Increased sensitivity of primary aniridia limbal stromal cells to travoprost, leading to elevated migration and MMP-9 protein levels, in vitro. [PDF]

PLoS One
Purpose In congenital aniridia, not only limbal epithelial cells but also limbal stromal cells may contribute to the development of aniridia associated keratopathy (AAK).
Li S, Stachon T, Liu S, Li Z, Hsu SL, Kundu S, Fries FN, Seitz B, Amini M, Suiwal S, Szentmáry N.   +10 more
europepmc   +2 more sources

Early ocular surface and tear film status in congenital aniridia indicates a supportive treatment window [PDF]

British Journal of Ophthalmology, 2022
Aim To evaluate changes in the ocular surface and tear film with age and mutational status in congenital aniridia. Methods 45 participants with congenital aniridia (89 eyes) in a prospective, cross-sectional study.
Fabian N. Fries, Kayed Moslemani, Tor Paaske Utheim, Berthold Seitz, Barbara Käsmann‐Kellner, Neil Lagali   +5 more
openalex   +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

Patient-derived cornea organoid model to study metabolomic characterization of rare disease: aniridia-associated keratopathy

BMC Ophthalmology
Background Aniridia is a rare panocular disease caused by gene mutation in the PAX6, which is essential for eye development. Aniridia is inherited in an autosomal dominant manner, but its phenotype can vary significantly among individuals with the same ...
Ali Can Koc, Vedat Sari, Gamze Kocak, Tuba Recber, Emirhan Nemutlu, Daniel Aberdam, Sinan Güven   +6 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

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

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

The novel ITPR1 p.Phe2566Ser variant impairs IP₃R1-mediated Ca²⁺ release and is associated with ataxia and miosis. [PDF]

J Intern Med
Journal of Internal Medicine, Volume 299, Issue 5, Page 643-648, May 2026.
Wincent J, Zhang S, Nolan A, Kanatani S, Nordin F, Kvarnung M, Uhlén P, Paucar M, Eidhof I.   +8 more
europepmc   +2 more sources