ArticleJCI insight2024
A human-like model of aniridia-associated keratopathy for mechanistic and therapeutic studies.
Article in JCI insight, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed.
- First pilot study of intrastromal rAAV-PAX6 gene therapy suggests improved corneal thickness and transcription correction in aniridic mouse.Molecular therapy. Advances · 2026Article
- Gellan Gum Fluid Gel System for Controlled-Delivery of Cytokine-Licensed MSC-EVs to Enhance Corneal Repair in Limbal Stem Cell Deficiency.Advanced healthcare materials · 2026Article
- Integrated Analysis of mRNA and microRNA Expression in Corneal Impression Cytology Samples from Patients withInternational journal of molecular sciences · 2026Article
- Preclinical Models of Rare Corneal and Ocular Surface Diseases: a Comprehensive Narrative Review.Ophthalmology and therapy · 2026Review
- High-performance proteomics reveals immune, epithelial, and vascular dysregulation underlying lacrimal fluid defects in patients with aniridia.BMC ophthalmology · 2026Article
- Sexual Dimorphism Is Associated With Corneal Nerve and Epithelial Alterations and Tear-Film Defects in Pax6 Haploinsufficiency Mouse Model.Investigative ophthalmology & visual science · 2026Article
- Patient-Derived Immortalized Limbal Epithelial Cells as In Vitro Models of Congenital Aniridia.Cells · 2026Article
- Transcriptomic Analysis in a Model of Aniridia-Associated Keratopathy for Target Discovery and Evaluation of Duloxetine Therapy.Investigative ophthalmology & visual science · 2026Article
- PAX6 Deficiency Compromises the Ability of Limbal Epithelial Stem Cells to Properly Differentiate Into Mature Corneal Epithelial Cells.Investigative ophthalmology & visual science · 2026Article
- A novel minimally humanized mouse model of aniridia for preclinical evaluation of CRISPR gene editing strategies.Frontiers in genome editing · 2026Article
- Central Corneal Epithelial Wounding Accelerates Aniridia-Associated Keratopathy in PAX6-Deficient Mice.Investigative ophthalmology & visual science · 2025Article
- Establishing Preclinical Quantitative Parameters for Future Assessment of Corneal and Retinal Therapeutics for Aniridia.Investigative ophthalmology & visual science · 2025Article
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Aniridia is a rare congenital condition of abnormal eye development arising principally from heterozygous mutation of the PAX6 gene. Among the multiple complications arising in the eye, aniridia-associated keratopathy (AAK) is a severe vision-impairing condition of the cornea associated with a progressive limbal stem cell deficiency that lacks suitable treatment options. Current mouse models of aniridia do not accurately represent the onset and progression dynamics of human AAK, hindering therapy development. Here, we performed deep phenotyping of a haploinsufficient Pax6+/- small-eye (Sey) mouse model on the 129S1/SvImJ background, which exhibits key features of mild presentation at birth and progressive AAK with aging, mimicking human disease. The model exhibits a slowly progressing AAK phenotype and provides insights into the disease, including disturbed basal epithelial cell organization, function, and marker expression; persistent postnatal lymphangiogenesis; disrupted corneal innervation patterns; and persisting yet altered limbal stem cell marker expression with age. The model recapitulates many of the known features of human disease, enabling investigation of underlying disease mechanisms and, importantly, access to a well-defined temporal window for evaluating future therapeutics.
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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.