Hyperinflammation and blindness. Screening for ROSAH syndrome

Hyperinflammation and blindness. Screening for ROSAH syndrome

In 2019, ROSAH syndrome (retinal dystrophy, optic nerve oedema, splenomegaly, anhidrosis, and headache) was identified in five families, attributed to a mutation in the ALPK1 gene. Subsequently, in 2022, it was classified within the spectrum of autoinflammatory diseases with multisystemic involvemen...

Full description

Saved in:
Bibliographic Details
Main Authors: Fernando Tornero-Romero, Rosa Sánchez-Hernandez, Lara Cantero-Del Olmo, Andrés Saravia-Moya, Marina Gonzalez de Rivera-Utrera, Ana Isabel Sánchez-Barbero, Ester Carreño-Salas
Format: Article
Language:English
Published: SMC MEDIA SRL 2025-03-01
Series:European Journal of Case Reports in Internal Medicine
Subjects:
rosah syndrome
inflammation
optic nerve oedema
alpk1 gene
tocilizumab
Online Access:https://www.ejcrim.com/index.php/EJCRIM/article/view/4989
Tags: Add Tag
No Tags, Be the first to tag this record!

Internet

https://www.ejcrim.com/index.php/EJCRIM/article/view/4989

Similar Items