TUBB3 function has not been fully characterized.

Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement is associated with mutations in the TUBB3 gene on chromosome 16.

Genetic testing for TUBB3 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 3 very common features, 4 common features.

No clinical trials have been registered for fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement.

8 publications have been identified in PubMed for fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement. Research spans Case Report / Case Series (38%), Epidemiology / Natural History (38%), and Review / Meta-Analysis (25%).

Recent Publications

• Rashidi FS (2026). [PMID: 42222555](https://pubmed.ncbi.nlm.nih.gov/42222555/). *Basic Clin Neurosci*. [Case Report / Case Series]

• Wang D (2026). [PMID: 40847091](https://pubmed.ncbi.nlm.nih.gov/40847091/). *Jpn J Ophthalmol*. [Epidemiology / Natural History]

• Aufderheide K (2026). [PMID: 41870107](https://pubmed.ncbi.nlm.nih.gov/41870107/). *Int Ophthalmol Clin*. [Review / Meta-Analysis]

• Borja NA (2025). [PMID: 39643435](https://pubmed.ncbi.nlm.nih.gov/39643435/). *J Med Genet*. [Case Report / Case Series]

• Webb BD (2025). [PMID: 40662098](https://pubmed.ncbi.nlm.nih.gov/40662098/). *Genet Med Open*. [Review / Meta-Analysis]

• Li M (2025). [PMID: 41184125](https://pubmed.ncbi.nlm.nih.gov/41184125/). *Zhong Nan Da Xue Xue Bao Yi Xue Ban*. [Case Report / Case Series]

• Liberton DK (2024). [PMID: 38791829](https://pubmed.ncbi.nlm.nih.gov/38791829/). *Int J Environ Res Public Health*. [Epidemiology / Natural History]

• Wu J (2024). [PMID: 39148141](https://pubmed.ncbi.nlm.nih.gov/39148141/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]