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.
Veronica van Heyningen, Isabel Hanson
exaly +4 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 OphthalmologyBackground 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 +8 more
doaj +2 more sources
The impact of vision impairment on living with congenital aniridia: a pan-European survey study [PDF]
Orphanet Journal of Rare DiseasesBackground Congenital aniridia is a rare but severe eye disease stemming from genetic variants in PAX6 or related genes and affecting all eye structures, causing lifelong disability. Awareness of the disease is poor even among ophthalmology professionals,
Renáta Schoffer +21 more
doaj +2 more sources
Patient-Derived Immortalized Limbal Epithelial Cells as In Vitro Models of Congenital Aniridia [PDF]
CellsPurpose: 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 +13 more
doaj +2 more sources
Altered Ocular Surface Temperature in Congenital Aniridia with PAX6 Pathogenic Variants: Impact of Age, Salzmann Nodules and Ocular Surgery [PDF]
LifePAX6 haploinsufficiency-related congenital aniridia is frequently associated with ocular surface disease, including meibomian gland dysfunction (MGD), dry eye, limbal stem cell deficiency (LSCD), aniridia-associated keratopathy (AAK), and inflammation ...
Orsolya Németh +17 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]
CellsThe 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 +9 more
doaj +2 more sources
Biomolecules, 2021 Congenital PAX6-aniridia is a rare panocular disease resulting from limbal stem cell deficiency. In PAX6-aniridia, the downregulation of the retinol-metabolizing enzymes ADH7 (All-trans-retinol dehydrogenase 7) and ALDH1A1/A3 (Retinal dehydrogenase 1 ...
Lorenz Latta +9 more
doaj +1 more source
A novel variant in PAX6 as the cause of aniridia in a Chinese family
BMC Ophthalmology, 2021 Background Aniridia is a kind of congenital human pan-ocular anomaly, which is related to PAX6 commonly. Methods The ophthalmic examinations including visual acuity, slit lamp and fundoscopy examination were performed in a Chinese aniridia pedigree.
X Jin, W Liu, LH Qv, WQ X, HB Huang
doaj +1 more source
A Clinical and Genetic Review of Aniridia
Journal of Pediatrics Review, 2015 Aniridia is a congenital pan-ocular, bilateral disorder. The term aniridia is a misleading misnomer, since at least a rudimentary iris is always present. Varied forms range from almost total absence to only mild hypoplasia of the iris.
Reza Jafari, Ahmad Ahmadzadeh Amiri
doaj +2 more sources
Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH. [PDF]
PLoS ONE, 2017 Chromosomal deletions at 11p13 are a frequent cause of congenital Aniridia, a rare pan-ocular genetic disease, and of WAGR syndrome, accounting up to 30% of cases.
Fiona Blanco-Kelly +11 more
doaj +1 more source