Purpose: To advance the knowledge of the ophthalmologist with regard to new developments in the genetics and pathologic mechanisms of uveitis.
Design: A review of recently published literature exploring the relationship between the nucleotide oligomerization domain (NOD2) gene and uveitis.
Results: Mutations in the nucleotide-binding region of NOD2 were found to be responsible for familial juvenile systemic granulomatosis (Blau syndrome or Jabs disease), a rare form of uveitis, arthritis, and dermatitis. The NOD2 gene is thought to be involved in the innate immune response to pathogens. Currently, the pathologic mechanisms behind Blau syndrome in familial juvenile systemic granulomatosis are unknown, but the interactions of NOD2 with caspases, nuclear factor kappaB, and other pathways are slowly being revealed.
Conclusions: A single amino acid change in NOD2 can lead to a chronic granulomatous uveitis. By studying NOD2 and the proteins that interact with NOD2, we should gain a better understanding of the pathogenic mechanisms of uveitis and identify novel ways to halt its destructive consequences.