Source: GeneReviews — "PAX6-Related Aniridia"

Genetic testing for PAX6 is available. Testing is considered confirmatory for diagnosis.

To establish the extent of disease and needs in an individual diagnosed with WAGR syndrome, the following are recommended:

• Evaluation by a pediatrician to assess growth and feeding

• Evaluation for Wilms tumor

• Evaluation by a urologist for urogenital abnormalities

• Developmental assessment

Treatment of Manifestations

Aniridia. Simple measures are often the most important:

Source: GeneReviews — "PAX6-Related Aniridia"

• Measurement of intraocular pressure;

• Optic disc examination;

• Visual field assessment when possible.

Note: Assessment of the optic disc and visual field may be difficult in the presence of media opacities and nystagmus. Optic disc photography is a useful method of monitoring optic disc changes. Aniridic fibrosis syndrome. Individuals with aniridia with a history of multiple ocular procedures (penetrating keratoplasty, IOLs, and drainage tube insertion) should be monitored for aniridic fibrosis syndrome .

WAGR Syndrome

Wilms tumor. Children with aniridia and a WT1 deletion require kidney ultrasound examinations every three months and follow up by a pediatric oncologist until they reach age eight years. See Wilms Tumor Predisposition. (Those without deletion of the WT1 locus are at very low risk for Wilms tumor and do not require such screening .

Source: GeneReviews — "PAX6-Related Aniridia"

Phenotype severity distribution: 10 always present features, 1 very common feature, 4 common features.

73 publications have been identified in PubMed for aniridia 1. Research spans Basic Science / Preclinical (34%), Review / Meta-Analysis (25%), and Case Report / Case Series (11%).

Recent Publications

• Romano D (2026). [PMID: 40892309](https://pubmed.ncbi.nlm.nih.gov/40892309/). *Acta Ophthalmol*. [Review / Meta-Analysis]

• Research on rare and intractable diseases, Health, Labour and Welfare Sciences Research Grants Clinical Practice Guideline Development Committee for Aniridia of the “Research group on establishing standardized diagnosis and treatment of Intractable corneal diseases” (2026). [PMID: 41903000](https://pubmed.ncbi.nlm.nih.gov/41903000/). *Jpn J Ophthalmol*. [Other]

• Tóth G (2026). [PMID: 41730347](https://pubmed.ncbi.nlm.nih.gov/41730347/). *Am J Ophthalmol*. [Other]

• Acosta MC (2026). [PMID: 41650310](https://pubmed.ncbi.nlm.nih.gov/41650310/). *Cornea*. [Epidemiology / Natural History]

• Ludwig PE (2026). [PMID: 29494102](https://pubmed.ncbi.nlm.nih.gov/29494102/). *Unknown Journal*. [Epidemiology / Natural History]

• Djaksigulova D (2026). [PMID: 41796252](https://pubmed.ncbi.nlm.nih.gov/41796252/). *Gene Ther*. [Gene Therapy / Novel Therapeutics]

• Research on rare and intractable diseases, Health, Labour and Welfare Sciences Research Grants Clinical Practice Guideline Development Committee for Aniridia of the “Research group on establishing standardized diagnosis and treatment of Intractable corneal diseases” (2026). [PMID: 41954827](https://pubmed.ncbi.nlm.nih.gov/41954827/). *Jpn J Ophthalmol*. [Other]

• Szentmáry N (2026). [PMID: 41631793](https://pubmed.ncbi.nlm.nih.gov/41631793/). *Acta Ophthalmol*. [Review / Meta-Analysis]

• Reis LM (2026). [PMID: 42133303](https://pubmed.ncbi.nlm.nih.gov/42133303/). *JAMA Ophthalmol*. [Case Report / Case Series]

• Skorkina M (2026). [PMID: 41744767](https://pubmed.ncbi.nlm.nih.gov/41744767/). *Cells*. [Review / Meta-Analysis]