Results 1 to 10 of about 25,639 (292)

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   +3 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   +3 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   +3 more sources

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.
Melanie, Hingorani, Isabel, Hanson, Veronica, van Heyningen   +2 more
exaly   +4 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

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

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

New horizons in aniridia management: Clinical insights and therapeutic advances

Taiwan Journal of Ophthalmology, 2023
Congenital aniridia is a rare genetic eye disorder characterized by the complete or partial absence of the iris from birth. Various theories and animal models have been proposed to understand and explain the pathogenesis of aniridia.
Abha Gour, Shailaja Tibrewal, Aastha Garg, Mehak Vohra, Ria Ratna, Virender Singh Sangwan   +5 more
doaj   +2 more sources

Pathophysiology of aniridia-associated keratopathy: Developmental aspects and unanswered questions

Ocular Surface, 2021
Aniridia, a rare congenital disease, is often characterized by a progressive, pronounced limbal insufficiency and ocular surface pathology termed aniridia-associated keratopathy (AAK).
Daniel Aberdam
exaly   +2 more sources

PAX6 disease models for aniridia

Indian Journal of Ophthalmology, 2022
Aniridia is a pan-ocular genetic developmental eye disorder characterized by complete or partial iris and foveal hypoplasia, for which there is no treatment currently.
Dorsa Abdolkarimi, Dulce Lima Cunha, Manuela Lahne, Mariya Moosajee   +3 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