Blau syndrome is a rare autosomal dominant autoinflammatory disease caused by NOD2 mutations. It presents with a triad of granulomatous arthritis, dermatitis, and uveitis.
Ocular involvement
Eye disease is often chronic and can be severe.
- Granulomatous panuveitis with mutton-fat keratic precipitates
- Band keratopathy, cataract, glaucoma, and macular oedema as complications
- Onset typically in early childhood
- Requires long-term ophthalmic follow-up
Treatment
Systemic therapy is central to control inflammation.
- Steroids and steroid-sparing immunosuppressants such as methotrexate
- Biologic agents targeting TNF or other pathways in refractory disease
- Topical treatments for acute ocular inflammation
- Visual rehabilitation if structural damage has occurred
