Kellogg Eye Center, University of Michigan, 1000 Wall Street, Ann Arbor, MI, 48105, USA.
Kresge Eye Institute, Wayne State University, 4717 St. Antoine, Detroit, MI, 48201, USA.
BMC Ophthalmol. 2020 Apr 16;20(1):153. doi: 10.1186/s12886-020-01423-y.
Monoclonal gammopathy of undetermined significance (MGUS) is a plasma cell dyscrasia and precursor to multiple myeloma. It has known ocular manifestations, but has not previously been shown to have an association with autoimmune retinopathy.
A 57 year-old female presented with 1 year of progressive, bilateral, peripheral vision loss, photopsias, and nyctalopia. Her fundus examination and extensive ancillary testing were concerning for hereditary versus autoimmune retinopathy. The patient was found to have anti-retinal antibodies against carbonic anhydrase II and enolase proteins with a negative genetic retinal dystrophy panel. Malignancy work-up was negative, but the patient was diagnosed with MGUS, a premalignant condition. The patient was treated with immunosuppressive therapies, with rituximab demonstrating the most robust therapeutic response with respect to patient symptoms and ophthalmic testing.
MGUS should be considered as a potential etiology of autoimmune retinopathy in patients without other autoimmune or malignant disease processes. Immunosuppressive therapy may be helpful in limiting disease progression, with rituximab showing efficacy in retinopathy refractory to other agents.
意义未明的单克隆丙种球蛋白血症（MGUS）是一种浆细胞异常，也是多发性骨髓瘤的前身。它有已知的眼部表现，但以前没有显示与自身免疫性视网膜病变有关。
一名 57 岁女性出现进行性双侧周边视力丧失、光幻视和夜盲 1 年。她的眼底检查和广泛的辅助检查提示遗传性与自身免疫性视网膜病变的鉴别诊断。患者被发现对碳酸酐酶 II 和烯醇化酶蛋白有抗视网膜抗体，基因视网膜营养不良面板为阴性。恶性肿瘤检查为阴性，但患者被诊断为 MGUS，一种癌前状态。患者接受了免疫抑制治疗，利妥昔单抗在缓解患者症状和眼科检查方面显示出最显著的治疗反应。
在没有其他自身免疫性或恶性疾病过程的患者中，MGUS 应被视为自身免疫性视网膜病变的潜在病因。免疫抑制治疗可能有助于限制疾病进展，利妥昔单抗在其他药物难治性视网膜病变中显示出疗效。
