Ophthalmological treatment of early-onset sarcoidosis/Blau syndrome in a Colombian child: a case report
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Fecha
2020
Título de la revista
Publicado en
American journal of ophthalmology case reports, 2451-9936, Vol. 18, 2020
Publicado por
Elsevier
ISSN de la revista
Título del volumen
Resumen
Descripción
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
Palabras clave
Keywords
Blau syndrome, Panuveitis, Retinal detachment
Temáticas
Artritis
Terapéutica
Oftalmología
Terapéutica
Oftalmología