Ophthalmology, New York Eye and Ear Infirmary of Mount Sinai, New York, New York, USA.
Neurology and Neuro-oncology, Memorial Sloan Kettering Cancer Center, New York, New York, USA.
BMJ Case Rep. 2022 Dec 5;15(12):e253572. doi: 10.1136/bcr-2022-253572.
A woman in her 70s experienced painless vision loss in the right eye for 1 month. Acute retinal necrosis-induced panuveitis was the referral diagnosis. With dense vitreous haze, a vitrectomy was performed for vitreous biopsy followed by multimodal imaging. Vitreous biopsy yielded negative PCR results for herpes viruses and only inflammatory cells. Post-vitrectomy imaging showed involuted but pervasive pigmentary foci in the outer retina and the retinal pigment epithelium. Concurrently, peripheral blood showed pancytosis with giant platelets and a Janus kinase 2 () mutation, which prompted a haematological evaluation. CT and MRI revealed a right frontal lobe intra-axial mass, diagnosed as diffuse large B cell lymphoma (DLBCL). Subsequently, bone marrow aspirate confirmed the pathogenic V617F mutation. Following chemotherapy, the patient achieved lymphoma regression and uveitic quiescence. This is the first case report of acute unilateral panuveitis in a patient with mutation and DLBCL but without evidence of intraocular involvement.
一位 70 多岁的女性右眼无痛性视力丧失 1 个月。转诊诊断为急性视网膜坏死引起的全葡萄膜炎。由于玻璃体混浊严重，进行了玻璃体切除术以进行玻璃体活检，随后进行了多模态成像。玻璃体活检聚合酶链反应结果为疱疹病毒阴性，仅为炎症细胞。玻璃体切除术后的影像学检查显示外视网膜和视网膜色素上皮有退行性但普遍存在的色素病灶。同时，外周血表现为全血细胞减少症伴巨大血小板和 Janus 激酶 2 ()突变，提示进行血液学评估。CT 和 MRI 显示右侧额叶脑内轴内肿块，诊断为弥漫性大 B 细胞淋巴瘤（DLBCL）。随后骨髓抽吸证实存在致病性 V617F 突变。化疗后，患者的淋巴瘤得到缓解，葡萄膜炎得到控制。这是首例报道的伴有 突变和 DLBCL 但无眼内受累证据的急性单侧全葡萄膜炎病例。
