ReviewInternational ophthalmology2019
Vision-threatening bilateral panuveitis and TRAPS in a child: an uncommon association.
Review in International ophthalmology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 11 citations in OpenAlex.
- Knowledge and Current Practices in Monogenic Uveitis: An International Survey by IUSG and AIDA Network.Ophthalmology and therapy · 2024Article
- Uveitis Associated with Monogenic Autoinflammatory Syndromes in Children.Ocular immunology and inflammation · 2023Review
- Retinopathy as an initial sign of hereditary immunological diseases: report of six families and challenges in eye clinic.Frontiers in immunology · 2023Article
- Selective activation of pro-anti-IL-1β antibody enhances specificity for autoinflammatory disorder therapy.Scientific reports · 2021Article
- Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.Mediators of inflammation · 2019Review
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo report a childhood case of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) carrying the R92Q variant with a vision-threatening bilateral panuveitis.
methodsCase report and review of the literature.
resultsA 7-year-old boy presented with an active bilateral panuveitis and a macular rash associated with fever. Fundus examination showed two choroidal lesions on the posterior pole of the right eye, and fluorescein angiography revealed early hypofluorescence and late hyperfluorescence of the lesions, which were hyper-autofluorescent. Extensive clinical laboratory analyses ruled out autoimmune diseases and systemic infection. The only remarkable finding was a positive IgG for herpes simplex 1. He underwent two successive diagnostic pars plana vitrectomies as well as cataract and glaucoma surgeries. Genetic analysis revealed a mutation in the TNFRSF1A gene, and the patient was diagnosed with TRAPS-associated bilateral panuveitis. He was treated with adalimumab and has been free of active inflammation since then.
conclusionsWe present here the first case reported of panuveitis in a patient with TRAPS. This finding stresses the increasing importance of genetic analysis in search of autoinflammatory diseases to establish an adequate diagnosis and treatment in cases of uveitis of unknown etiology.
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