Results 11 to 20 of about 19,020 (198)

PAX6 disease models for aniridia [PDF]

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   +4 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   +4 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

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

Effects of Aberrant Pax6 Gene Dosage on Mouse Corneal Pathophysiology and Corneal Epithelial Homeostasis [PDF]

, 2011
Background: Altered dosage of the transcription factor PAX6 causes multiple human eye pathophysiologies. PAX6(+/-) heterozygotes suffer from aniridia and aniridia-related keratopathy (ARK), a corneal deterioration that probably involves a limbal ...
Mort, Richard L., Fullwood, Nigel J., West, John D., Martin, Francis L., Collinson, J. Martin, Morley, Steven D., Douvaras, Panagiotis, Hill, Robert E., Bentley, Adam J.   +8 more
core   +5 more sources

Aniridia-associated keratopathy: Clinical and molecular mechanisms of disease progression and emerging therapeutic targets. [PDF]

Acta Ophthalmol
Abstract Congenital aniridia is a rare genetic disorder primarily caused by pathogenic variants of the PAX6 gene. It leads to various panocular anomalies, including aniridia‐associated keratopathy (AAK). This review highlights recent insights into its pathogenesis, focusing on clinical staging, microstructural changes in the cornea and molecular ...
Szentmáry N, Suiwal S, Amini M, Fries FN, Náray A, Latta L, Li Z, Li S, Liu S, Hsu SL, Kundu S, Tóth G, Trusen S, Zimmermann J, Seitz B, Käsmann-Kellner B, Hoxha Z, Langenbucher A, Stachs O, Cortón-Perez M, Tory K, Csorba A, Nagy ZZ, Acosta MC, Gallar J, Csidey M, Maka E, Stachon T.   +27 more
europepmc   +2 more sources

Chandelier retroillumination-assisted cataract surgery in two cases of congenital aniridia with severe aniridia-associated keratopathy: case series

Therapeutic Advances in Ophthalmology
Congenital aniridia is a rare genetic eye disorder often associated with PAX6 gene mutations, leading to complex ocular manifestations, including aniridia-associated keratopathy (AAK) and cataracts.
Joseph Hu, Chao-Chien Hu
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   +1 more source

Aniridia-related keratopathy : structural changes in naïve and transplanted corneal buttons [PDF]

, 2018
Background: To study structural changes in naive and surgically treated corneas of aniridia patients with advanced aniridia-related keratopathy (ARK).
André Vicente, Vicente, André,, Domellof, F. P., Stenevi, Ulf,, Lindström, Mona,, Mona Lindström (5368277), Fátima Pedrosa Domellöf (5368271), Pedrosa Domellöf, Fatima,, Vicente, A., Bystrom, B., Lindström, Mona, Ulf Stenevi, Pedrosa Domellöf, Fatima, Berit Byström (775753), Mona Lindström, Lindstrom, M., Stenevi, Ulf, Byström, Berit, Berit Byström, Fátima Pedrosa Domellöf, Ulf Stenevi (5368274), Vicente, André, Byström, Berit,, André Vicente (1383480)   +23 more
core   +1 more source