Corneal Ulcers with NOD2 Mutations Presenting with Mixed Syndromic Phenotype.

Area of Science:

• Ophthalmology
• Genetics
• Immunology

Background:

• Corneal ulcers and uveitis can be associated with genetic mutations affecting inflammatory pathways.
• NOD2 mutations are known to influence immune responses and inflammatory conditions.

Observation:

• A patient with type I diabetes, Asperger syndrome, and neuropathy presented with bilateral corneal ulcers and signs of anterior uveitis.
• Genetic testing revealed NOD2 mutations, and matrix metallopeptidase 9 was detected in her tear film.
• Treatment with intravenous immunoglobulin and aggressive ocular therapy led to improvement in neurological and ophthalmic symptoms.

Findings:

• The patient's NOD2 mutations, while unique, presented with clinical features resembling syndromic phenotypes like Blau syndrome.
• The presence of matrix metallopeptidase 9 in tear film suggests a role in ocular inflammation associated with NOD2 mutations.

Implications:

• This case expands the understanding of NOD2's role in ocular inflammatory diseases, particularly corneal pathology.
• Individuals with NOD2 mutations may have an increased susceptibility to corneal complications due to impaired inflammatory regulation.
• Further research into NOD2's function in the eye could lead to novel therapeutic strategies for inflammatory eye conditions.