Blau yndrome Aociated With a CARD15/NOD2 Mutation

Purpoe To report a new family with Blau yndrome caued by CARD15/NOD2 mutation. Deign Obervational cae erie. Method Detailed clinical evaluation in three affected relative with Blau yndrome. Haplotype and mutation analyi of the CARD15/NOD2 gene were performed. Reult Ocular manifetation identified in the proband include bilateral band keratopathy, cataract, iriti, vitriti and evere granulomatou choroidopathy. The mother and one brother of the proband exhibit the ame characteritic organ involvement of thi dieae. Haplotype analyi from the pericentromeric region on chromoome 16 identified a common haplotype in all affected relative that i abent in unaffected relative. equencing analyi revealed a heterozygou pathogenic mutation in the CARD15/NOD2 gene, the previouly reported p.R334W ubtitution. Concluion Blau yndrome i a rare autoomal-dominant dieae that can lead to evere viual impairment. The earch of a CARD15/NOD2 mutation could be helpful in the differential diagnoi of childhood uveiti.