Wilms' Tumor and Congenital Aniridia [PDF]
CA: A Cancer Journal for Clinicians, 1969 Among 28 children under 4 years of age hospitalized with congenital aniridia, Wilms' tumor subsequently developed in six and one had the neoplasm on admission. Five of these seven patients have not, to our knowledge, been reported previously, bringing to 22 the total number of cases known with this association.
J F, Fraumeni, A G, Glass
exaly +6 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
Chandelier retroillumination-assisted cataract surgery in two cases of congenital aniridia with severe aniridia-associated keratopathy: case series [PDF]
Therapeutic Advances in OphthalmologyCongenital 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
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
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 +4 more
doaj +2 more sources
Coexistence of congenital lacrimal gland agenesis and congenital aniridia: Case report [PDF]
American Journal of Ophthalmology Case ReportsPurpose: 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 +4 more
doaj +2 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 +4 more
doaj +2 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
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
Monica, Samant +3 more
openaire +4 more sources
Congenital Aniridia and the Ocular Surface
The 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 +3 more
openaire +6 more sources