Hyperinflammation and blindness. Screening for ROSAH syndrome
ROSAH is a syndrome that includes retinal dystrophy, optic nerve oedema, splenomegaly, anhidrosis and headache.So far it has only been reported in five families who have a mutation in the <i>ALPK1</i> gene.Patients can improve dramatically on treatment with an interleukin 6 inhibitor.
Authors
- Fernando Tornero-Romero
- Rosa M. Sánchez-Hernández (ORCID: https://orcid.org/0000-0003-4991-7445)
- Ana Isabel Sánchez-Barbero
- Lara Cantero-Del Olmo
- Andrés Saravia-Moya
- Marina Gonzalez de Rivera-Utrera
- Ester Carreño-Salas
Institutions
- Hospital Universitario Fundación Jiménez Díaz (ES)
Publication Details
- Journal
- European Journal of Case Reports in Internal Medicine
- Published
- 2025-03-19
- DOI
- https://doi.org/10.12890/2025_004989
- Citations
- 1
- Primary Topic
- Inflammasome and immune disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.81