PXDN function has not been fully characterized.

Anterior segment dysgenesis 7 is caused by mutations in the PXDN gene on chromosome 2.

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

Phenotype severity distribution: 3 always present features, 3 common features.

Estimated prevalence: Unknown (Unknown prevalence).

No clinical trials have been registered for anterior segment dysgenesis 7.

16 publications have been identified in PubMed for anterior segment dysgenesis 7. Research spans Review / Meta-Analysis (25%), Epidemiology / Natural History (25%), and Case Report / Case Series (19%).

Recent Publications

• Maxwell GE (2026). [PMID: 42096227](https://pubmed.ncbi.nlm.nih.gov/42096227/). *JAMA Ophthalmol*. [Epidemiology / Natural History]

• Saha BC (2026). [PMID: 41936534](https://pubmed.ncbi.nlm.nih.gov/41936534/). *Eur J Ophthalmol*. [Review / Meta-Analysis]

• Yoon HJ (2026). [PMID: 41875091](https://pubmed.ncbi.nlm.nih.gov/41875091/). *J Craniofac Surg*. [Case Report / Case Series]

• Wang B (2025). [PMID: 39265692](https://pubmed.ncbi.nlm.nih.gov/39265692/). *Am J Ophthalmol*. [Basic Science / Preclinical]

• Marutha T (2025). [PMID: 39870121](https://pubmed.ncbi.nlm.nih.gov/39870121/). *Gene*. [Epidemiology / Natural History]

• Samad K (2025). [PMID: 40326030](https://pubmed.ncbi.nlm.nih.gov/40326030/). *Curr Med Chem*. [Basic Science / Preclinical]

• Cronbach N (2025). [PMID: 41011222](https://pubmed.ncbi.nlm.nih.gov/41011222/). *Pharmaceuticals (Basel)*. [Review / Meta-Analysis]

• Matsuo T (2025). [PMID: 40718285](https://pubmed.ncbi.nlm.nih.gov/40718285/). *Cureus*. [Case Report / Case Series]

• Elksne E (2025). [PMID: 40427049](https://pubmed.ncbi.nlm.nih.gov/40427049/). *Biomedicines*. [Epidemiology / Natural History]

• Wai YZ (2025). [PMID: 40145154](https://pubmed.ncbi.nlm.nih.gov/40145154/). *Med J Malaysia*. [Case Report / Case Series]