Irreversible Ocular and Systemic Damage in ROSAH Syndrome - PubMed
4 hours ago
- #Autoinflammatory Disease
- #ROSAH Syndrome
- #Ocular Complications
- ROSAH syndrome causes bilateral optic disc/peripapillary issues, cone-rod retinal dystrophy, uveitis, and retinal vasculitis.
- New findings include keratoconus, dry eye, and acute angle-closure glaucoma in some patients.
- First reported case of reactive amyloidosis in ROSAH syndrome led to severe renal failure requiring dialysis.
- Systemic symptoms include fever, splenomegaly, headache, dental anomalies, and anhidrosis; splenectomy resolved fever in two.
- Conventional immunosuppressants were ineffective; interleukin-6 inhibition helped systemically but limited ocular improvement.
- Early diagnosis is crucial to prevent irreversible damage and guide targeted treatments.