ReviewOphthalmology and therapy2025
Comprehensive Analysis of Congenital Aniridia and Differential Diagnoses: Genetic Insights and Clinical Manifestations.
Review in Ophthalmology and therapy, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 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
- Aniridia-associated keratopathy: Clinical and molecular mechanisms of disease progression and emerging therapeutic targets.Acta ophthalmologica · 2026Review
- CoClBMC ophthalmology · 2026Article
- Small Copy Number Neutral Intrachromosomal Translocation of PAX6 and Aniridia.JAMA ophthalmology · 2026Article
- High-performance proteomics reveals immune, epithelial, and vascular dysregulation underlying lacrimal fluid defects in patients with aniridia.BMC ophthalmology · 2026Article
- Review
- Altered Ocular Surface Temperature in Congenital Aniridia withLife (Basel, Switzerland) · 2026Article
- A novel minimally humanized mouse model of aniridia for preclinical evaluation of CRISPR gene editing strategies.Frontiers in genome editing · 2026Article
- Applicability of Electroretinography Measurements in Congenital PAX6-Related Aniridia.Investigative ophthalmology & visual science · 2025Article
Corrections and comments
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Authors and funding
14 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionCongenital aniridia (CA) is a severe and complex disorder involving the entire eye, primarily characterized by iris anomalies alongside other clinical features that pose significant risks to vision. This study seeks to offer a comprehensive overview of CA by detailing its clinical presentations, genetic underpinnings, associated phenotypes, and differential diagnoses. Additionally, it proposes a diagnostic framework to distinguish CA from other conditions that present with similar iris abnormalities.
methodsWe conducted a comprehensive literature review to compile and analyze clinical and genetic data related to CA and its differential diagnoses. We included all studies describing the clinical characteristics, pathogenic variants, and associated syndromes of congenital aniridia.
resultsCA presents a wide range of ocular symptoms. Pathogenic variants in the PAX6 gene are the primary genetic cause of CA, though variations in other genes, including FOXC1, PITX2, CYP1B1, FOXD3, PITX3, CPAMD8, ITPR1, TENM3, TRIM44, COL4A1, CRYAA, and PXDN may also be implicated. The differential diagnosis of CA requires careful consideration of conditions with overlapping symptoms, such as WAGR syndrome (which involves deletions affecting the PAX6 and WT1 genes on chromosome 11p13, and potentially BDNF on 11p14.1), Axenfeld-Rieger syndrome (FOXC1/PITX2), ring-chromosome 6 syndrome (which involves FOXC1 microdeletion), COL4A1-related anterior segment dysgenesis, Gillespie syndrome (ITPR1 gene) or Peters anomaly. Accurate diagnosis can be achieved by evaluating specific clinical features-including iris anomalies, aniridia-associated keratopathy, cataracts, glaucoma, foveal hypoplasia, nystagmus, and optic nerve head abnormalities-supplemented by genetic testing.
conclusionsUnderstanding the diverse clinical presentations and genetic basis of diseases associated with iris abnormalities is essential for accurate diagnosis and effective management. Integrating genetic diagnostics into the evaluation process enables the development of tailored treatment strategies, which can significantly improve patient outcomes.
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