Tocilizumab as a treatment tool for ROSAH syndrome: a case report
Tocilizumab showed significant anatomical benefit in this ROSAH syndrome patient, suggesting a role for IL-6 in disease pathophysiology. Although vision could not be restored, the response supports the use of targeted biologics in managing ROSAH. Broader clinical studies are needed to confirm efficacy. This case also highlights the importance of including ALPK1 in genetic panels for optic neuropathies, retinal disorders, and unexplained arthropathies to improve diagnosis and treatment strategies.
Authors
- Luís Figueira (ORCID: https://orcid.org/0000-0002-4481-882X)
- Ana Sofia Figueiredo (ORCID: https://orcid.org/0000-0002-2575-2191)
- Mariana Rodrigues (ORCID: https://orcid.org/0000-0003-4855-147X)
- Renata d’Oliveira
- Iva Brito (ORCID: https://orcid.org/0000-0001-9821-6405)
- Rita Teixeira-Martins (ORCID: https://orcid.org/0000-0001-7919-3148)
- Ana Faria-Pereira
Institutions
- University of Trás-os-Montes and Alto Douro (PT)
- Universidade do Porto (PT)
- Hospital de São João (PT)
- Administração Regional de Saúde de Lisboa e Vale do Tejo (PT)
Publication Details
- Journal
- Journal of Ophthalmic Inflammation and Infection
- Published
- 2025-11-21
- DOI
- https://doi.org/10.1186/s12348-025-00550-1
- Citations
- 1
- Primary Topic
- Osteomyelitis and Bone Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 1.67