Ophthalmological treatment of early-onset sarcoidosis/Blau syndrome in a Colombian child: A case report
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...
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| Format: | Article |
| Language: | English |
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Elsevier
2020-06-01
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| Series: | American Journal of Ophthalmology Case Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2451993619301203 |
| _version_ | 1818597606841909248 |
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| author | María Alejandra Marín-Noriega, M.D. Juliana Muñoz-Ortiz, M.D. Catalina Mosquera, M.D. Alejandra de-la-Torre, M.D., Ph.D. |
| author_facet | María Alejandra Marín-Noriega, M.D. Juliana Muñoz-Ortiz, M.D. Catalina Mosquera, M.D. Alejandra de-la-Torre, M.D., Ph.D. |
| author_sort | María Alejandra Marín-Noriega, M.D. |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-16T11:50:29Z |
| format | Article |
| id | doaj.art-d57cb400059b45e29ea3e152cc8639e5 |
| institution | Directory Open Access Journal |
| issn | 2451-9936 |
| language | English |
| last_indexed | 2024-12-16T11:50:29Z |
| publishDate | 2020-06-01 |
| publisher | Elsevier |
| record_format | Article |
| series | American Journal of Ophthalmology Case Reports |
| spelling | doaj.art-d57cb400059b45e29ea3e152cc8639e52022-12-21T22:32:44ZengElsevierAmerican Journal of Ophthalmology Case Reports2451-99362020-06-0118Ophthalmological treatment of early-onset sarcoidosis/Blau syndrome in a Colombian child: A case reportMaría Alejandra Marín-Noriega, M.D.0Juliana Muñoz-Ortiz, M.D.1Catalina Mosquera, M.D.2Alejandra de-la-Torre, M.D., Ph.D.3NeURos Research Group. Escuela de Medicina y Ciencias de La Salud, Universidad Del Rosario, Carrera 24 # 63 C 69, Bogotá, ColombiaNeURos Research Group. Escuela de Medicina y Ciencias de La Salud, Universidad Del Rosario, Carrera 24 # 63 C 69, Bogotá, Colombia; Escuela Barraquer Research Group. Escuela Superior de Oftalmología del Instituto Barraquer de América, Avenida Calle 100 # 18A – 51, Bogotá, ColombiaPrograma de Reumatología Pediátrica. Universidad Del Bosque, Calle 131A #9-2, Bogotá, ColombiaNeURos Research Group. Escuela de Medicina y Ciencias de La Salud, Universidad Del Rosario, Carrera 24 # 63 C 69, Bogotá, Colombia; Corresponding author. Ophthalmologist, Uveitis Specialist. NeURos Research Group, Escuela de Medicina y Ciencias de la Salud, Universidad del Rosario, Carrera 24 # 63 C 69, Bogotá, Colombia.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.http://www.sciencedirect.com/science/article/pii/S2451993619301203Blau syndromePanuveitisRetinal detachmentArthritisTherapy |
| spellingShingle | María Alejandra Marín-Noriega, M.D. Juliana Muñoz-Ortiz, M.D. Catalina Mosquera, M.D. Alejandra de-la-Torre, M.D., Ph.D. Ophthalmological treatment of early-onset sarcoidosis/Blau syndrome in a Colombian child: A case report American Journal of Ophthalmology Case Reports Blau syndrome Panuveitis Retinal detachment Arthritis Therapy |
| title | Ophthalmological treatment of early-onset sarcoidosis/Blau syndrome in a Colombian child: A case report |
| title_full | Ophthalmological treatment of early-onset sarcoidosis/Blau syndrome in a Colombian child: A case report |
| title_fullStr | Ophthalmological treatment of early-onset sarcoidosis/Blau syndrome in a Colombian child: A case report |
| title_full_unstemmed | Ophthalmological treatment of early-onset sarcoidosis/Blau syndrome in a Colombian child: A case report |
| title_short | Ophthalmological treatment of early-onset sarcoidosis/Blau syndrome in a Colombian child: A case report |
| title_sort | ophthalmological treatment of early onset sarcoidosis blau syndrome in a colombian child a case report |
| topic | Blau syndrome Panuveitis Retinal detachment Arthritis Therapy |
| url | http://www.sciencedirect.com/science/article/pii/S2451993619301203 |
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