Systemic Diseases in Patients with Congenital Aniridia: A Report from the Homburg Registry for Congenital Aniridia [PDF]
Ophthalmology and TherapyIntroduction Congenital aniridia is increasingly recognized as part of a complex syndrome with numerous ocular developmental anomalies and non-ocular systemic manifestations. This requires comprehensive care and treatment of affected patients.
Jessica Obst +10 more
doaj +6 more sources
Descemet Stripping Endothelial Keratoplasty for Congenital Aniridia: An Interesting and Challenging Story [PDF]
Türk Oftalmoloji Dergisi, 2022 Congenital aniridia is a rare condition affecting a wide range of ocular structures, from the ocular surface to the retina. We present the case of a 59-year-old woman with PAX6- and WT1-negative congenital aniridia who developed aniridia-associated ...
Ioannis Athanasiadis +2 more
doaj +3 more sources
A novel microdeletion of 517 kb downstream of the PAX6 gene in a Chinese family with congenital aniridia [PDF]
BMC Ophthalmology, 2023 Background To identify the disease-causing gene in a Chinese family affected with congenital aniridia. Methods Patients underwent systematic ophthalmic examinations such as anterior segment photography, fundus photography, optical coherence tomography ...
Yinwen Li +8 more
doaj +3 more sources
Clinical and molecular aspects of congenital aniridia – A review of current concepts [PDF]
Indian Journal of Ophthalmology, 2022 Congenital aniridia is a pan ocular disorder characterized by partial or total loss of iris tissue as the defining feature. Classic aniridia, however, has a spectrum of ocular findings, including foveal hypoplasia, optic nerve hypoplasia, nystagmus, late-
Shailja Tibrewal +9 more
doaj +2 more sources
Outcomes of Trabeculectomy and Glaucoma Drainage Device Surgery in Congenital Aniridia-Associated Glaucoma: A Systematic Review and Meta-Analysis [PDF]
Ophthalmology and TherapyIntroduction 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
A novel 4.25 kb heterozygous deletion in PAX6 in a Chinese Han family with congenital aniridia combined with cataract and nystagmus [PDF]
BMC Ophthalmology, 2021 Background The aim of this study is to identify the genetic defect in a Chinese family with congenital aniridia combined with cataract and nystagmus.
Tianwei Qian +7 more
doaj +2 more sources
Novel clinical presentation and PAX6 mutation in families with congenital aniridia [PDF]
Frontiers in Medicine, 2022 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 +2 more sources
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.
Joseph F Fraumeni
exaly +4 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
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