Corneal Ulcers with NOD2 Mutations Presenting with Mixed Syndromic Phenotype.

Purpose: To report a case of corneal ulcers in a patient with NOD2 mutations unique to but phenotypically resembling well-characterized syndromic phenotypes like Blau syndrome.

Observation: A 25-year-old female with a medical history of type I diabetes mellitus, Asperger syndrome, and neuropathy presented with bilateral corneal ulcers. Her visual acuity was 20/200 OU.