TGFBI function has not been fully characterized.

Epithelial basement membrane dystrophy is associated with mutations in the TGFBI gene on chromosome 5.

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

Biomarker and diagnostic research for epithelial basement membrane dystrophy has been reported in the published literature.

Phenotype severity distribution: 1 always present feature.

1 clinical trial registered. Interventions under study include procedural interventions. Pipeline includes 1 NA. Research is primarily sponsored by academic and government institutions.

19 publications have been identified in PubMed for epithelial basement membrane dystrophy. Research spans Clinical Trial Publication (42%), Case Report / Case Series (21%), and Epidemiology / Natural History (16%).

Recent Publications

• Zengin S (2026). [PMID: 41726249](https://pubmed.ncbi.nlm.nih.gov/41726249/). *Case reports in pathology*. [Case Report / Case Series]

• Charoenrook V (2026). [PMID: 41683752](https://pubmed.ncbi.nlm.nih.gov/41683752/). *International journal of molecular sciences*. [Clinical Trial Publication]

• Sneyers A (2026). [PMID: 40974359](https://pubmed.ncbi.nlm.nih.gov/40974359/). *Ophthalmology*. [Clinical Trial Publication]

• Kaiser KP (2026). [PMID: 41499048](https://pubmed.ncbi.nlm.nih.gov/41499048/). *International ophthalmology*. [Case Report / Case Series]

• Ünal S (2026). [PMID: 41705817](https://pubmed.ncbi.nlm.nih.gov/41705817/). *Turkish journal of ophthalmology*. [Basic Science / Preclinical]

• Kimmell SW (2026). [PMID: 41847240](https://pubmed.ncbi.nlm.nih.gov/41847240/). *Clin Optom (Auckl)*. [Clinical Trial Publication]

• Paoletti T (2026). [PMID: 41949920](https://pubmed.ncbi.nlm.nih.gov/41949920/). *Cornea*. [Epidemiology / Natural History]

• Liskova P (2025). [PMID: 40079222](https://pubmed.ncbi.nlm.nih.gov/40079222/). *Clinical & experimental ophthalmology*. [Review / Meta-Analysis]

• Helm S (2025). [PMID: 41497725](https://pubmed.ncbi.nlm.nih.gov/41497725/). *Journal of ophthalmology*. [Clinical Trial Publication]

• Touirssa O (2025). [PMID: 40874967](https://pubmed.ncbi.nlm.nih.gov/40874967/). *Journal of epidemiology and global health*. [Epidemiology / Natural History]