Results 11 to 20 of about 5,544 (177)

A nonsense mutation in a family with congenital aniridia [PDF]

Korean Journal of Pediatrics, 2016
Congenital aniridia is a rare ocular malformation that presents with severe hypoplasia of the iris and various ocular manifestations. Most cases of congenital aniridia are known to be related to mutations in the paired box gene-6 (PAX6), which is an ...
Kyoung Hee Han, Hye Jin Lee, Il-Soo Ha, Hee Gyung Kang, Hae Il Cheong   +4 more
doaj   +3 more sources

Congenital Aniridia and the Ocular Surface

Ocular Surface, 2016
Aniridia is a congenital pan-ocular disorder caused by haplo-insufficiency of Pax6, a crucial gene for proper development of the eye. Aniridia affects a range of eye structures, including the cornea, iris, anterior chamber angle, lens, and fovea. The ocular surface, in particular, can be severely affected by a progressive pathology termed aniridia ...
Robert Ihnatko, Per Fagerholm, Neil Lagali   +2 more
exaly   +6 more sources

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

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   +3 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   +3 more sources

Nonsense suppression induced readthrough of a novel PAX6 mutation in patient‐derived cells of congenital aniridia [PDF]

Molecular Genetics & Genomic Medicine, 2020
Background Congenital aniridia is a severe ocular abnormality characterized by incomplete formation of the iris and many other ocular complications. Most cases are caused by the paired box 6 (PAX6) gene mutations generating premature termination codons ...
Xiaoliang Liu, Yuanyuan Zhang, Bijun Zhang, Haiming Gao, Chuang Qiu   +4 more
doaj   +3 more sources

Coexistence of congenital lacrimal gland agenesis and congenital aniridia: Case report [PDF]

American Journal of Ophthalmology Case Reports
Purpose: To document a rare case of congenital aniridia due to paired box gene 6 (PAX6), elongated protein 4 (ELP4) and fusion gene DKFZp686k1684 mutation with bilateral congenital lacrimal gland agenesis and multiple ocular comorbidities, aiming to ...
Khawlah A. Alzaben, Bayan S. Alshuhayb, Sulaiman M. Alsulaiman, Maram Alenazi, Mashael A. Alkhayyal   +4 more
doaj   +3 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

Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases [PDF]

Human Genomics, 2023
Background Haploinsufficiency of the transcription factor PAX6 is the main cause of congenital aniridia, a genetic disorder characterized by iris and foveal hypoplasia.
Alejandra Damián, Gonzalo Núñez-Moreno, Claire Jubin, Alejandra Tamayo, Marta Rodríguez de Alba, Cristina Villaverde, Cédric Fund, Marc Delépine, Aurélie Leduc, Jean François Deleuze, Pablo Mínguez, Carmen Ayuso, Marta Corton   +12 more
doaj   +3 more sources

Efficacy and Safety of Plasma Rich in Growth Factor in Patients with Congenital Aniridia and Dry Eye Disease [PDF]

Diseases
Congenital aniridia is a rare bilateral ocular malformation characterized by the partial or complete absence of the iris and is frequently associated with various anomalies, including keratopathy, cataract, glaucoma, and foveal and optic nerve hypoplasia.
Javier Lozano-Sanroma, Alberto Barros, Ignacio Alcalde, Rosa Alvarado-Villacorta, Ronald M. Sánchez-Ávila, Juan Queiruga-Piñeiro, Luis Fernández-Vega Cueto, Eduardo Anitua, Jesús Merayo-Lloves   +8 more
doaj   +4 more sources

Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approaches [PDF]

Progress in Retinal and Eye Research, 2023
Congenital PAX6-aniridia, initially characterized by the absence of the iris, has progressively been shown to be associated with other developmental ocular abnormalities and systemic features making congenital aniridia a complex syndromic disorder rather
Dominique Brémond-Gignac
exaly   +5 more sources