Abstract：
PURPOSE:To report a childhood case of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) carrying the R92Q variant with a vision-threatening bilateral panuveitis. METHODS:Case report and review of the literature. RESULTS:A 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. CONCLUSIONS:We 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.
journal_name
Int Ophthalmoljournal_title
International ophthalmologyauthors
Cocho L,Urbaneja E,Herreras JMdoi
10.1007/s10792-017-0785-ysubject
Has Abstractpub_date
2019-01-01 00:00:00pages
219-223issue
1eissn
0165-5701issn
1573-2630pii
10.1007/s10792-017-0785-yjournal_volume
39pub_type
杂志文章,评审abstract：PURPOSE:To evaluate the effects of epiretinal membrane (ERM) formation on the anatomic and functional results of subjects with diabetic macular edema (DME) who are receiving intravitreal aflibercept injections (IAIs). MATERIALS AND METHODS:This retrospective comparative study includes 29 eyes with DME (Group 1) and 43...
journal_title：International ophthalmology
pub_type： 杂志文章
doi：10.1007/s10792-020-01444-y
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abstract：:To evaluate the efficacy of golimumab on severe and frequent recurrent anterior uveitis in patients with HLA-B27-positive ankylosing spondylitis. In this study, 15 eyes of 12 HLA-B27-positive AS patients with resistant anterior uveitis who received 50 mg of subcutaneous golimumab (Gol) per month due to frequent uveiti...
journal_title：International ophthalmology
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journal_title：International ophthalmology
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journal_title：International ophthalmology
pub_type： 杂志文章
doi：10.1023/a:1006306812296
更新日期：1998-01-01 00:00:00
