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European Journal of Human Genetics, 2012 Aniridia is a rare congenital disorder in which there is a variable degree of hypoplasia or the absence of iris tissue associated with multiple other ocular changes, some present from birth and some arising progressively over time. Most cases are associated with dominantly inherited mutations or deletions of the PAX6 gene.
Melanie, Hingorani +2 more
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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 +4 more sources
PAX6 disease models for aniridia [PDF]
Indian Journal of Ophthalmology, 2022 Aniridia is a pan-ocular genetic developmental eye disorder characterized by complete or partial iris and foveal hypoplasia, for which there is no treatment currently.
Dorsa Abdolkarimi +3 more
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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
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Biomolecules, 2021 Congenital PAX6-aniridia is a rare panocular disease resulting from limbal stem cell deficiency. In PAX6-aniridia, the downregulation of the retinol-metabolizing enzymes ADH7 (All-trans-retinol dehydrogenase 7) and ALDH1A1/A3 (Retinal dehydrogenase 1 ...
Lorenz Latta +9 more
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A novel variant in PAX6 as the cause of aniridia in a Chinese family
BMC Ophthalmology, 2021 Background Aniridia is a kind of congenital human pan-ocular anomaly, which is related to PAX6 commonly. Methods The ophthalmic examinations including visual acuity, slit lamp and fundoscopy examination were performed in a Chinese aniridia pedigree.
X Jin, W Liu, LH Qv, WQ X, HB Huang
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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
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Clinical and molecular aspects of congenital aniridia – A review of current concepts
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
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A Case of Foldable Artificial Iris Implantation for Treatment of Postcataract Surgery Aniridia
Case Reports in Ophthalmology, 2023 We report an approach for managing acquired aniridia induced by intraoperative floppy iris syndrome (IFIS) during cataract surgery. An 81-year-old man with right blurred vision and photophobia symptoms was treated for extensive iris defects due to ...
Norihiro Watanabe, Shinichiro Kobayakawa
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A novel PAX6 variant as the cause of aniridia in a Chinese patient with SRRRD
BMC Medical Genomics, 2023 Background The genotype characteristics and their associated clinical phenotypes in patients with aniridia were analyzed to explore pathogenic variants using whole-exome sequencing.
Qian Wang +3 more
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