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 +1 more source
Tear fluid biomarkers in ocular and systemic disease: potential use for predictive, preventive and personalised medicine [PDF]
, 2016 In the field of predictive, preventive and personalised medicine, researchers are keen to identify novel and reliable ways to predict and diagnose disease, as well as to monitor patient response to therapeutic agents.
A Acera +183 more
core +2 more sources
Clinical outcomes and visual prognostic factors in congenital aniridia
BMC Ophthalmology, 2022 Background Evaluate outcomes and identify prognostic factors in congenital aniridia. Methods Retrospective interventional case series of patients with congenital aniridia treated between 2012–2020.
A. Jacobson, S. Mian, Brenda L. Bohnsack
semanticscholar +1 more source
Excess caffeine exposure impairs eye development during chick embryogenesis [PDF]
, 2014 Caffeine has been an integral component of our diet and medicines for centuries. It is now known that over consumption of caffeine has detrimental effects on our health, and also disrupts normal foetal development in pregnant mothers.
Cheng, Xin +6 more
core +3 more sources
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
doaj +1 more source
Evaluating Outer Segment Length as A Surrogate Measure of Peak Foveal Cone Density [PDF]
, 2017 Adaptive optics (AO) imaging tools enable direct visualization of the cone photoreceptor mosaic, which facilitates quantitative measurements such as cone density. However, in many individuals, low image quality or excessive eye movements precludes making
Carroll, Joseph +4 more
core +2 more sources
Docosahexaenoic acid promotes photoreceptor differentiation without altering Crx expression [PDF]
, 2006 PURPOSE: The precise molecular cues required for photoreceptor development are still unknown. Pax6 and Crx are essential during early retinal development and for photoreceptor differentiation, respectively.
Garelli, Andres +2 more
core +2 more sources
A Cross-sectional Analysis of 556 Eyes Entering the Homburg Aniridia Centre
Klinische Monatsblätter für Augenheilkunde, 2022 Purpose Congenital aniridia is a severe malformation of almost all eye segments. In addition, endocrinological, metabolic, and central nervous systems diseases may be present.
F. Fries +7 more
semanticscholar +1 more source
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
doaj +1 more source
A rare missense PAX6 mutation causes atypical aniridia in a three-generation Chinese family [PDF]
International Journal of OphthalmologyAIM: 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