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Published on: February 15, 2020
Irreversible Ocular and Systemic Damage in ROSAH Syndrome
Claudia Fabiani1, Valeria Caggiano2, Jessica Sbalchiero2
1Ophthalmology Unit, Department of Medical Sciences, Surgery and Neurosciences, University of Siena and Azienda Ospedaliero-Universitaria Senese [European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory, and Autoimmune Diseases (RITA) Center], Siena, Italy. claudia.fabiani@aidanetwork.org.
ROSAH syndrome involves retinal dystrophy and optic nerve issues. Novel findings include keratoconus, dry eye, and reactive amyloidosis, emphasizing early diagnosis for better outcomes.
Area of Science:
- Ophthalmology
- Genetics
- Rheumatology
Background:
- ROSAH syndrome is a rare disorder with ocular and systemic manifestations.
- Previous descriptions lack detailed clinical, genetic, and pathophysiologic insights.
Purpose of the Study:
- To describe the clinical, genetic, and pathophysiologic features of ROSAH syndrome in four Italian patients.
- To highlight novel ocular and systemic manifestations and therapeutic considerations.
Main Methods:
- Detailed phenotypic, ophthalmologic, and systemic assessments were performed on four genetically confirmed cases.
- Ocular and systemic manifestations, complications, inflammatory markers, and treatment responses were analyzed.
Main Results:
- Ocular findings include optic disc/peripapillary involvement, cone-rod retinal dystrophy, uveitis, vasculitis, keratoconus, dry eye, and glaucoma.
- Systemic findings include reactive amyloidosis leading to renal failure, with splenectomy and IL-6 inhibition showing partial efficacy.
Conclusions:
- ROSAH syndrome exhibits diverse ocular features, including anterior segment anomalies.
- Reactive amyloidosis is a potential complication, necessitating early diagnosis and targeted interventions to prevent organ damage.
