Results 11 to 20 of about 17,913 (203)

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   +4 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

CoCl2-induced alterations in antioxidative and inflammatory marker expression in an siRNA-based in vitro model of aniridia-associated limbal epithelial dysfunction [PDF]

BMC Ophthalmology
Background Congenital aniridia is a rare disease, accompanied by aniridia associated keratopathy (AAK) in most cases. Oxidative stress and inflammation are involved in the progression of AAK.
Shao-Lun Hsu, Nóra Szentmáry, Fabian N. Fries, Zhen Li, Ning Chai, Berthold Seitz, Maryam Amini, Shweta Suiwal, 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

Fungal Keratitis Following Application of Dehydrated Amniotic Membrane (Omnigen) With (OmniLenz) Bandage Contact Lens. [PDF]

Case Rep Ophthalmol Med
Background Amniotic membrane is a common treatment option for several corneal and conjunctival conditions. There are several methods for preserving amniotic membrane, and each involves some compromise of the tissue integrity. Dehydrated amniotic membrane has been used for several indications, including microbial infections, aniridia, chemical burns ...
Alsaif BA, Alfaraidi AT, Alshabeeb R.
europepmc   +2 more sources

Color Vision in Aniridia [PDF]

Investigative Opthalmology & Visual Science, 2018
To assess color vision and its association with retinal structure in persons with congenital aniridia.We included 36 persons with congenital aniridia (10-66 years), and 52 healthy, normal trichromatic controls (10-74 years) in the study. Color vision was assessed with Hardy-Rand-Rittler (HRR) pseudo-isochromatic plates (4th ed., 2002); Cambridge Color ...
Pedersen, Hilde Røgeberg, Hagen, Lene Aarvelta, Landsend, Erlend Christoffer Sommer, Gilson, Stuart, Utheim, Øygunn Aass, Utheim, Tor Paaske, Neitz, Maureen, Baraas, Rigmor C.   +7 more
core   +6 more sources

Aniridia in Two Related Tennessee Walking Horses [PDF]

Case Reports in Veterinary Medicine, 2013
Aniridia in horses is rare and has previously been reported to be genetically transmitted in Belgian horses and Quarter horses. This paper describes the defect in 2 related Tennessee Walking horses, with special reference to new findings regarding the ...
Karen A. McCormick, Daniel Ward, Kimberly M. Newkirk   +2 more
doaj   +2 more sources

Management of Mixed Mechanism Glaucoma Secondary to NewColorIris Implant Using an Ab Externo Xen Gel Stent. [PDF]

Case Rep Ophthalmol Med
Background and Aims We present a case of mixed mechanism glaucoma following NewColorIris implant that was successfully treated using an off‐label use of Xen Gel Stent. Methods A retrospective review of the patient′s medical records was conducted following the acquisition of informed consent.
Sangani R, Shukla P, Habiel MM.
europepmc   +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