Congenital aniridia with cataract: case series. [PDF]
BMC Ophthalmol, 2017 This study evaluates patients with congenital aniridia and cataract who underwent phacoemulsification, capsular tension ring placement, and foldable intraocular lens implantation.In this prospective case series, 10 patients (17 eyes) underwent cataract surgery via a 3.2 mm clear corneal incision. A continuous circular capsulorhexis with
Wang JD +11 more
europepmc +6 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
Bharesh K Chauhan, Ken K Nischal
exaly +3 more sources
Self-reported symptoms of everyday executive dysfunction, daytime sleepiness, and fatigue and health status among adults with congenital aniridia: a descriptive study [PDF]
Health Psychology and Behavioral Medicine, 2023 Background Congenital aniridia is a rare genetic disorder of the eye characterized by visual impairment and progressive vision loss. While prior research has focused on ocular manifestations in individuals with aniridia, there is a dearth of research on ...
Solrun Sigurdardottir +4 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
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Aqueous Humor Levels of Cytokines and Growth Factors in Patients with Congenital Aniridia
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 +3 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
Bitot-like Spots and Congenital Aniridia: A Case Report. [PDF]
J Clin MedBackground: Bitot’s spots, defined as white foamy triangular or round-shaped spots with the base located at the temporal limbus and the apex towards the lateral canthus, were initially associated with vitamin A deficiency (VAD).
Mocanu V +3 more
europepmc +2 more sources
Early ocular surface and tear film status in congenital aniridia indicates a supportive treatment window. [PDF]
Br J Ophthalmol, 2023 AimTo evaluate changes in the ocular surface and tear film with age and mutational status in congenital aniridia. Methods45 participants with congenital aniridia (89 eyes) in a prospective, cross-sectional study.
Fries FN +5 more
europepmc +2 more sources
The Retina in Congenital Aniridia - Structural, Functional and Genetic Variability [PDF]
, 2020 Aniridia is a rare, congenital eye disorder most commonly caused by a mutation in the PAX6 gene, which affects eye development and leads to a range of ocular anomalies, including iris- and foveal hypoplasia and vision impairment.
Pedersen, Hilde Røgeberg
core +4 more sources