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International Ophthalmology

Published in:

01-01-2019 | Case Report

Vision-threatening bilateral panuveitis and TRAPS in a child: an uncommon association

Authors: Lidia Cocho, Elena Urbaneja, José M. Herreras

Published in: International Ophthalmology | Issue 1/2019

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.

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Title: Vision-threatening bilateral panuveitis and TRAPS in a child: an uncommon association
Authors: Lidia Cocho
Elena Urbaneja
José M. Herreras
Publication date: 01-01-2019
Publisher: Springer Netherlands
Published in: International Ophthalmology / Issue 1/2019
Print ISSN: 0165-5701
Electronic ISSN: 1573-2630
DOI: https://doi.org/10.1007/s10792-017-0785-y

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Vision-threatening bilateral panuveitis and TRAPS in a child: an uncommon association

Abstract

Purpose

Methods

Results

Conclusions

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Purpose

Methods

Results

Conclusions

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