Tocilizumab as a treatment tool for ROSAH syndrome: a case report.

Area of Science:

• Genetics
• Ophthalmology
• Immunology

Background:

• ROSAH syndrome is a rare autosomal dominant disorder caused by pathogenic variants in ALPK1, leading to chronic inflammation.
• ALPK1 gene variants increase NF-κB activation, contributing to systemic and ocular inflammatory features.
• Clinical manifestations include early-onset retinal dystrophy and optic nerve edema.

Purpose of the Study:

• To report a case of ROSAH syndrome managed with targeted biologics.
• To investigate the role of IL-6 in ROSAH syndrome pathophysiology.
• To emphasize the importance of ALPK1 genetic testing.

Main Methods:

• A 16-year-old female with genetically confirmed ROSAH syndrome was treated with various biologics.
• Tocilizumab, an IL-6 receptor antagonist, was administered due to persistent ocular inflammation.
• Clinical and anatomical outcomes were assessed before and after tocilizumab treatment.

Main Results:

• Tocilizumab treatment led to a significant reduction in macular edema and optic disc swelling within one month.
• Despite anatomical improvements, visual function did not recover due to pre-existing retinal damage.
• Previous treatments with methotrexate, adalimumab, and rituximab showed only modest benefits.

Conclusions:

• Tocilizumab demonstrated significant anatomical efficacy in managing ROSAH syndrome, suggesting IL-6 plays a role in the disease.
• Targeted biologic therapies show promise for ROSAH syndrome management, though further studies are needed.
• Early ALPK1 genetic testing is crucial for diagnosing optic neuropathies and retinal disorders.