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Features include always present findings: Posterior polar cataract; and sometimes findings: Ocular anterior segment dysgenesis. 6 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 4 | Opacification of the corneal stroma, Ocular hypertension, Posterior polar cataract |
PITX3 function has not been fully characterized.
Anterior segment dysgenesis 1 is associated with mutations in the PITX3 gene on chromosome 10.
Genetic testing for PITX3 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 1 always present feature.
No clinical trials have been registered for anterior segment dysgenesis 1.
31 publications have been identified in PubMed for anterior segment dysgenesis 1. Research spans Case Report / Case Series (35%), Basic Science / Preclinical (19%), and Review / Meta-Analysis (16%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 11 | 35% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:39 PM UTC
Online Mendelian Inheritance in Man
1 |
Ocular hypertension |
6 |
19% |
Research summaries | 5 | 16% |
Disease patterns and progression | 5 | 16% |
Other research | 2 | 6% |
Clinical study results | 2 | 6% |
Apam-Garduño D (2026). [PMID: 41917731](https://pubmed.ncbi.nlm.nih.gov/41917731/). *Ophthalmic Genet*. [Case Report / Case Series]
Chattannavar G (2026). [PMID: 41486651](https://pubmed.ncbi.nlm.nih.gov/41486651/). *Ophthalmic Genet*. [Case Report / Case Series]
Ninet L (2026). [PMID: 41654108](https://pubmed.ncbi.nlm.nih.gov/41654108/). *J AAPOS*. [Case Report / Case Series]
Veleva-Krasteva N (2026). [PMID: 42074612](https://pubmed.ncbi.nlm.nih.gov/42074612/). *Genes (Basel)*. [Case Report / Case Series]
Tripathy K (2026). [PMID: 30860739](https://pubmed.ncbi.nlm.nih.gov/30860739/). *Unknown Journal*. [Review / Meta-Analysis]
Koyanagi Y (2026). [PMID: 41942473](https://pubmed.ncbi.nlm.nih.gov/41942473/). *Hum Genome Var*. [Basic Science / Preclinical]
Maxwell GE (2026). [PMID: 42096227](https://pubmed.ncbi.nlm.nih.gov/42096227/). *JAMA Ophthalmol*. [Epidemiology / Natural History]
Matsuo T (2025). [PMID: 40718285](https://pubmed.ncbi.nlm.nih.gov/40718285/). *Cureus*. [Case Report / Case Series]
Marutha T (2025). [PMID: 39870121](https://pubmed.ncbi.nlm.nih.gov/39870121/). *Gene*. [Epidemiology / Natural History]
Cronbach N (2025). [PMID: 41011222](https://pubmed.ncbi.nlm.nih.gov/41011222/). *Pharmaceuticals (Basel)*. [Review / Meta-Analysis]