Results 31 to 40 of about 25,639 (292)
A Clinical and Genetic Review of Aniridia
Journal of Pediatrics Review, 2015 Aniridia is a congenital pan-ocular, bilateral disorder. The term aniridia is a misleading misnomer, since at least a rudimentary iris is always present. Varied forms range from almost total absence to only mild hypoplasia of the iris.
Reza Jafari, Ahmad Ahmadzadeh Amiri
doaj +2 more sources
Progress in retinal and eye research, 2022 Congenital PAX6-aniridia, initially characterized by the absence of the iris, has progressively been shown to be associated with other developmental ocular abnormalities and systemic features making congenital aniridia a complex syndromic disorder rather
A. Daruich +16 more
semanticscholar +1 more source
Klinische Monatsblätter für Augenheilkunde, 2023 Background Congenital aniridia is a severe malformation of almost all eye segments. Aniridia-associated keratopathy (AAK) and secondary glaucoma, which occur in more than 50% of affected individuals, are typically progressive and pose a high risk of ...
F. Fries +7 more
semanticscholar +1 more source
Protein profiling of conjunctival impression cytology samples of aniridia subjects
Acta ophthalmologica, 2023 Congenital aniridia is a rare disease, which is in most cases related to PAX6 haploinsufficiency. Aniridia associated keratopathy (AAK) also belongs to ocular signs of congenital aniridia.
T. Stachon +8 more
semanticscholar +1 more source
Report on the 2021 Aniridia North America symposium on PAX6, aniridia, and beyond.
The ocular surface, 2023 The inaugural Aniridia North America (ANA) Symposium was held on the first weekend in November 2021 in Charlottesville, VA, at the University of Virginia. The purpose of this meeting was to bring together an international group of scientists, physicians,
R. Grainger +6 more
semanticscholar +1 more source
A review of the role of ultrasound biomicroscopy in glaucoma associated with rare diseases of the anterior segment [PDF]
, 2016 Ultrasound biomicroscopy is a non-invasive imaging technique, which allows high-resolution evaluation of the anatomical features of the anterior segment of the eye regardless of optical media transparency.
Abdolrahimzadeh, B +5 more
core +2 more sources
Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH. [PDF]
PLoS ONE, 2017 Chromosomal deletions at 11p13 are a frequent cause of congenital Aniridia, a rare pan-ocular genetic disease, and of WAGR syndrome, accounting up to 30% of cases.
Fiona Blanco-Kelly +11 more
doaj +1 more source
Journal of Medical Genetics, 2023 Background Classic aniridia is a highly penetrant autosomal dominant disorder characterised by congenital absence of the iris, foveal hypoplasia, optic disc anomalies and progressive opacification of the cornea.
H. N. Hall +17 more
semanticscholar +1 more source
Optical Coherence Tomography Angiography assessment in Congenital Aniridia.
American journal of ophthalmology-glaucoma, 2023 PURPOSE This study aims to characterize foveal vasculature assessed by optical coherence tomography angiography (OCT-A) in congenital aniridia which is hallmarked by foveal hypoplasia (FH). DESIGN Cross-sectional case/control analysis.
A. Dentel +5 more
semanticscholar +1 more source
Susceptibility loci CNVs with incomplete penetrance accurate diagnosis with uncertain prognosis [PDF]
, 2019 Chromosomal microarray analysis (CMA) is the first-tier test for developmental delay, autism spectrum disorders, and congenital abnormalities in postnatal diagnosis and for ultrasound abnormalities in prenatal diagnosis.
Correia, Hildeberto +2 more
core +1 more source