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
The Triple Procedure in Patients with Congenital Aniridia. [PDF]
J Clin MedBackground: Aniridia is a rare panocular, bilateral, and congenital disease characterized by complete or partial iris hypoplasia and foveal hypoplasia, leading to decreased visual acuity and nystagmus. AAK, also referred to as aniridic keratopathy, manifests as corneal surface damage, epithelial thinning or loss, inflammation with immune cell ...
Wowra BH +4 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 +12 more
doaj +2 more sources
Congenital aniridia: etiology, manifestations and management [PDF]
Expert Review of Ophthalmology, 2016 Congenital aniridia manifests as total or partial absence of the iris caused most commonly by mutations in PAX6, FOXC1, PITX2, and CYP1B1. Recently two new genes, FOXD3 and TRIM44, have also been implicated in isolated studies. We discuss the genotype-phenotype correlations for the main implicated genes. Classic aniridia is a panocular condition, which
Ken K. Nischal +2 more
exaly +3 more sources
Efficacy and Safety of Plasma Rich in Growth Factor in Patients with Congenital Aniridia and Dry Eye Disease [PDF]
DiseasesCongenital 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 +8 more
doaj +2 more sources
Aniridia associated with congenital aphakia and secondary glaucoma
Indian Journal of Ophthalmology, 2009 We report a case of aniridia associated with congenital aphakia and secondary glaucoma. A 35-year-old male presented with aniridia, congenital aphakia and secondary glaucoma in both eyes.
Moreker Mayur +3 more
doaj +1 more source
Indian Journal of Ophthalmology, 2017 Congenital aniridia is a kind of eye disease characterized by complete or partial hypoplasia of the iris and is associated with other ocular anomalies including corneal opacity, glaucoma, and foveal hypoplasia. Heterozygous mutation of paired box 6 (PAX6)
Woo Jin Kim, Jong Ha Kim, Nam Chun Cho
doaj +2 more sources
Aqueous Humor Levels of Cytokines and Growth Factors in Patients with Congenital Aniridia [PDF]
Oftalʹmologiâ, 2019 Purpose. To study the concentration of cytokines and growth factors in the aqueous humor of patients with congenital aniridia.Patients and methods.
A. A. Voskresenskaya +7 more
doaj +2 more sources
A Novel PAX6 Frameshift Mutation Identified in a Large Chinese Family with Congenital Aniridia. [PDF]
J Pers Med, 2023 Congenital aniridia is a rare autosomal dominant congenital ocular disorder. Genetic studies suggest that heterozygous mutations in the developmental regulator PAX6 gene or the related regulatory regions leading to haploinsufficiency are the main cause ...
Wang C +7 more
europepmc +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. +8 more
core +5 more sources