J Pediatr Ophthalmol Strabismus. 2021 Jul-Aug;58(4):e19-e21. doi: 10.3928/01913913-20210416-01. Epub 2021 Jul 1.
The authors present a case of bilateral painless progressive proptosis. A diagnosis of ocular juvenile xanthogranuloma was made based on clinical manifestations, histopathology, and immunohistochemistrical staining. Genetic testing discovered the BRAF V600E mutation. This patient did not respond to standard chemotherapy; however, he demonstrated regression after anti-BRAF targeted therapy. .
作者报告了一例双侧无痛性进行性眼球突出病例。根据临床表现、组织病理学和免疫组织化学染色,诊断为眼幼年黄色肉芽肿。基因检测发现 BRAF V600E 突变。该患者对标准化疗无反应,但在接受抗 BRAF 靶向治疗后显示出消退。