Outcomes of Trabeculectomy and Glaucoma Drainage Device Surgery in Congenital Aniridia-Associated Glaucoma: A Systematic Review and Meta-Analysis [PDF]
Introduction This study aimed to compare the surgical outcomes of trabeculectomy and glaucoma drainage device (GDD) implantation in patients with congenital aniridia.
Gábor Tóth +7 more
doaj +2 more sources
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
Aniridia associated with congenital aphakia and secondary glaucoma
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
Effects of Aberrant Pax6 Gene Dosage on Mouse Corneal Pathophysiology and Corneal Epithelial Homeostasis [PDF]
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 ...
Fullwood, Nigel J. +34 more
core +1 more source
Characteristics and Utility of Fundus Autofluorescence in Congenital Aniridia Using Scanning Laser Ophthalmoscopy [PDF]
PURPOSE. To investigate fundus autofluorescence (FAF) and other fundus manifestations in congenital aniridia. METHODS. Fourteen patients with congenital aniridia and 14 age- and sex-matched healthy controls were examined. FAF images were obtained with an
Utheim, Tor P., +23 more
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Traumatic Aniridia Following a Blunt Ocular Trauma in a Pseudophakic Patient [PDF]
Blunt ocular traumas cause serious ocular problems in the anterior and posterior segments of the eye and even may result in globe perforation. In the literature, some cases have been reported with aniridia by traumatic iris expulsion and preserved ...
Tufan, Hasan Ali +9 more
core +1 more source
A rare missense PAX6 mutation causes atypical aniridia in a three-generation Chinese family [PDF]
AIM: To investigate the molecular diagnosis of a three-generation Chinese family affected with aniridia, and further to identify clinically a PAX6 missense mutation in members with atypical aniridia.
Zhi-Bo Lin +6 more
doaj +1 more source
Novel clinical presentation and PAX6 mutation in families with congenital aniridia
PurposeTo explore the clinical phenotype and genetic defects of families with congenital aniridia.MethodsFour Chinese families with aniridia were enrolled in this study. The detailed ocular presentations of the patients were recorded.
Ruru Guo +5 more
doaj +1 more source
New horizons in aniridia management: Clinical insights and therapeutic advances
Congenital aniridia is a rare genetic eye disorder characterized by the complete or partial absence of the iris from birth. Various theories and animal models have been proposed to understand and explain the pathogenesis of aniridia.
Abha Gour +5 more
doaj +1 more source
Congenital aniridia is primarily characterized by hypoplasia of the iris and the retinal fovea. Foveal hypoplasia is the main cause of congenital reduced vision. Keratopathy is common in aniridia, leading to considerable visual impairment.
Landsend, Erlend Christoffer Sommer
core +1 more source

