First Author: I.Yago SPAIN
Co Author(s): D. Martinez J. Marin Sanchez
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To describe the ophthalmic findings in a 7-year-old female patients with a granulomatous bilateral panuveitis and its relationship with a NOD-2 gene mutation.
Paediatric Ophthalmology Unit, Hospital Universitario Virgen de la Arrixaca, Murcia (Spain)
A healthy Caucasian female patient presented with vision loss and red painful eyes of 2 weeks. Her visual acuity (VA) was 0.8/0.8. Slit lamp examination revealed an anterior granulomatous uveitis with iridocorneal vascularized nodules in both eyes (BE). Funduscopy showed moderate vitritis, optic disc (OD) edema and periphlebitis in BE. Small punched-out choroidal scars could be seen in midperiphery of the left eye. OCT (iVue, Optovue, Fremont, CA) examination confirmed OD elevation and a subfoveal neurosensory detachment. Bilateral leakage from the OD and small peripheral retinal vessels was evident on fluorescein angiography. Infectious disease were ruled out so systemic treatment was initiated with prednisone, methotrexate and adalimumab. Suspecting BS, NOD2 gene sequencing was requested and it was positive for a mutation associated with CD (R702W). Elevated levels of calprotectin were detected without pathologic involvement in colonoscopy.
A single amino acid change in NOD2 can lead to different chronic granulomatous diseases. Mutation in NOD2 is associated with BS and CD and both entities tend to simulate each other. In our case, we have a patient with panuveitis attributable to an early onset sarcoidosis whose study led us to a probable diagnosis of CD.