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Ophthalmological treatment of early-onset sarcoidosis/Blau syndrome in a Colombian child: A case report
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Marín-Noriega, María Alejandra
Muñoz-Ortiz, Juliana
Mosquera, Catalina
de-la-Torre, Alejandra
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2020
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Elsevier Inc
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Abstract
Purpose: To report the ophthalmological approach of a patient with Blau syndrome (BS) in Colombia. Observations: We describe a 9-year-old Colombian boy with sporadic BS due to a de novo nucleotide-binding oligomerization domain containing 2 (NOD2) mutation, who presented with joint and dermatologic symptoms. He was referred to the uveitis service with a single functional eye, due to retinal detachment in the other eye. Despite treatment with corticosteroids, methotrexate, and adalimumab, the patient continued to exhibit progressive disease. Conclusion: BS-related uveitis is characterized by severe ocular morbidity. Appropriate interdisciplinary treatment is necessary for the correct identification and management of the disease, considering the inherent difficulty in its diagnosis due to its diverse clinical manifestations. The severity of BS-related uveitis in this report highlights the need for more effective therapies. © 2020
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Keywords
Adalimumab , Arginine , C reactive protein , Folic acid , Methotrexate , Prednisolone , Tryptophan , Anemia , Anterior eye segment , Aphakia , Arthritis , Article , Band keratopathy , Best corrected visual acuity , Blau syndrome , Blunt trauma , Case report , Cataract , Cataract extraction , Child , Clinical article , Colombian , Conjunctival hyperemia , Elbow , Erythrocyte sedimentation rate , Eye examination , Eye fundus , Female , Fever , Follow up , Gene mutation , Genetic analysis , Genetic variability , Granuloma , Human , Human tissue , Hyphema , Interphalangeal joint , Joint biopsy , Knee , Labor , Leg disease , Metacarpophalangeal joint , Mother , Nuclear magnetic resonance imaging , Oligomerization , Ophthalmologist , Pannus , Premature labor , Protein blood level , Rash , Relapse , Retina detachment , Rheumatologist , Sarcoidosis , School child , Skin defect , Tenosynovitis , Thrombocytosis , Uveitis , Vitrectomy , Vitreous body detachment , Vitritis , Wrist , Arthritis , Blau syndrome , Panuveitis , Retinal detachment , Therapy
