Features include always present findings: Keratitis; and common findings: Opacification of the corneal stroma. 7 total HPO annotations.

NLRP3 encodes NLR family pyrin domain containing 3 (1,036 aa). Sensor component of the NLRP3 inflammasome, which mediates inflammasome activation in response to defects in membrane integrity, leading to secretion of inflammatory cytokines IL1B and IL18 and pyroptosis. Highest expression in Whole Blood (23.3 TPM) and Lung (6.7 TPM).

Keratitis fugax hereditaria is associated with mutations in the NLRP3 gene on chromosome 1.

The NLRP3 protein participates in CLEC7A/inflammasome pathway pathway.

NLRP3 is classified as a druggable target (Druggable Genome category) with score 5.8.

Genetic testing for NLRP3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for keratitis fugax hereditaria has been reported in the published literature.

Phenotype severity distribution: 1 always present feature, 1 common feature.

No clinical trials have been registered for keratitis fugax hereditaria.

4 publications have been identified in PubMed for keratitis fugax hereditaria. Research spans Case Report / Case Series (50%), Diagnostic / Biomarker (25%), and Epidemiology / Natural History (25%).

Recent Publications

• Ruutila M (2026). [PMID: 40387305](https://pubmed.ncbi.nlm.nih.gov/40387305/). *Acta Ophthalmol*. [Epidemiology / Natural History]

• Moshirfar M (2026). [PMID: 32119323](https://pubmed.ncbi.nlm.nih.gov/32119323/). *Unknown Journal*. [Case Report / Case Series]

• Immonen AT (2025). [PMID: 40057011](https://pubmed.ncbi.nlm.nih.gov/40057011/). *Am J Ophthalmol*. [Diagnostic / Biomarker]

• Ravi R (2025). [PMID: 41263296](https://pubmed.ncbi.nlm.nih.gov/41263296/). *Eur Thyroid J*. [Case Report / Case Series]