Work

130149 Ocular involvement in early-onset sarcoidosis in children: a case series

Year: 2025

Type: conference-paper

Abstract: Background Early-onset sarcoidosis (EOS), including its familial variant Blau syndrome, is a rare granulomatous autoinflammatory condition characterised by arthritis, dermatitis and uveitis. Ocular involvement may be the earliest or most prominent feature and is sight-threatening yet is sparsely described in the literature. This case series, conducted as a retrospective analysis at a tertiary paediatric uveitis service, describes the ocular presentations, complications, and outcomes in EOS.Clinical Findings All six patients presented with granulomatous uveitis: five had posterior segment involvement including choroiditis and optic disc swelling. The average age of ocular involvement onset was 7 years. Diagnosis was confirmed by elevated serum ACE alone (n=1), or combined with a lymph node biopsy (n=2), skin biopsy (n=2) or genetic confirmation of a NOD2 variant (n=1).Management All patients were treated with systemic immunosuppression, including a combination of methotrexate (n=6), adalimumab (n=5), mycophenolate (n=2), oral corticosteroids (n=3), and/or infliximab (n=1).Results/Discussion Complications included, but were not limited to, uveitic glaucoma (n=2), cataract (n=3) and chorioretinal scarring (n=1). Visual acuity improved or remained stable in most cases, with only one case of persistent visual impairment. This series highlights the heterogenous, aggressive and chronic disease course of EOS-related uveitis, with early onset, bilateral involvement and frequent complications. Early initiation of systemic immunosuppression, particularly with methotrexate and adalimumab, appeared to limit disease progression and preserve vision.Conclusions EOS can cause sight-threatening uveitis in children. Early diagnosis and aggressive systemic therapy are essential to prevent irreversible ocular damage and optimise visual outcomes.

Source: BMJ Open Ophthalmology

DOI: 10.1136/bmjophth-2025-biposa.30