ArticleInvestigative ophthalmology & visual science2016
Heterozygous Pitx2 Null Mice Accurately Recapitulate the Ocular Features of Axenfeld-Rieger Syndrome and Congenital Glaucoma.
Article in Investigative ophthalmology & visual science, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
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The trial behind it
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Who cites it
19 citing papers in PubMed, 34 citations in OpenAlex.
- Diagnostic Challenges of Axenfeld-Rieger Syndrome and a Novel FOXC1 Gene Mutation in a Polish Family.Journal of clinical medicine · 2024Article
- Ophthalmological Manifestations of Axenfeld-Rieger Syndrome: Current Perspectives.Clinical ophthalmology (Auckland, N.Z.) · 2023Review
- Early-Onset Glaucoma inBiomedicines · 2022Article
- Deletion of transcription factor AP-2β from the developing murine trabecular meshwork region leads to progressive glaucomatous changes.Journal of neuroscience research · 2022Article
- Quantification and image-derived phenotyping of retinal ganglion cell nuclei in the nee mouse model of congenital glaucoma.Experimental eye research · 2021Article
- A missense mutation in Pitx2 leads to early-onset glaucoma via NRF2-YAP1 axis.Cell death & disease · 2021Article
- Progressive Loss of Retinal Ganglion Cells in Activating Protein-2β Neural Crest Cell Knockout Mice.Current eye research · 2021Article
- Heterogeneity of Axenfeld-Rieger Syndrome: Molecular and Clinical Findings in Chinese Patients.Frontiers in genetics · 2021Article
- KIT ligand produced by limbal niche cells under control of SOX10 maintains limbal epithelial stem cell survival by activating the KIT/AKT signalling pathway.Journal of cellular and molecular medicine · 2020Article
- AP-2β is required for formation of the murine trabecular meshwork and Schlemm's canal.Experimental eye research · 2020Article
- A large deletion spanningMolecular vision · 2020Article
- Spatiotemporal Characterization of Anterior Segment Mesenchyme Heterogeneity During Zebrafish Ocular Anterior Segment Development.Frontiers in cell and developmental biology · 2020Article
- The Ocular Neural Crest: Specification, Migration, and Then What?Frontiers in cell and developmental biology · 2020Review
- Expression Analysis of the PITX2 Gene and Associations between Its Polymorphisms and Body Size and Carcass Traits in Chickens.Animals : an open access journal from MDPI · 2019Article
- Genetic architecture of retinoic-acid signaling-associated ocular developmental defects.Human genetics · 2019Review
- Phenotype-genotype correlations and emerging pathways in ocular anterior segment dysgenesis.Human genetics · 2019Review
- Relationship between neural crest cell specification and rare ocular diseases.Journal of neuroscience research · 2019Review
- PITX2 deficiency and associated human disease: insights from the zebrafish model.Human molecular genetics · 2018Article
- Primary congenital and developmental glaucomas.Human molecular genetics · 2017Review
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
purposeThe purpose of this analysis was to assess the utility of Pitx2+/- mice as a model for the ocular features of Axenfeld-Rieger Syndrome and for congenital glaucoma.
methodsEyes of Pitx2+/- and wild-type littermates were examined clinically using optical coherence tomography (OCT) and fundus photography. Intraocular pressures were measured using a TonoLab rebound tonometer. Eyes were examined histologically to assess PITX2 expression, structural integrity, and optic nerve and ganglion cell content.
resultsPITX2 is present postnatally in the corneal endothelium and stroma, iris stroma, trabecular meshwork, and Schlemm's canal. Reduced central corneal thickness, iris defects, and iridicorneal adhesions are all prevalent in Pitx2+/- eyes. Although optic nerve heads appear normal at postnatal day 7, IOP is elevated and optic nerve head cupping is fully penetrant in Pitx2+/- eyes by 3 weeks of age. Neurodegeneration is present in a significant percentage of optic nerves from Pitx2+/- mice by 3 weeks of age, and is fully penetrant by 2 months of age. Pitx2+/- eyes show significant reductions in specifically ganglion cell density in all four quadrants by 2 months of age.
conclusionsPitx2+/- mice model the major ocular features of Axenfeld-Rieger Syndrome and will be an important resource for understanding the molecular mechanisms leading to anterior segment dysgenesis and a high prevalence of glaucoma in this disease. In addition, these mice may provide an efficient new model for assessing the molecular events in glaucoma more generally, and for developing and testing new treatment paradigms for this disease.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.