ten Berge Josianne C E M, Schreurs Marco W J, Dufour-van den Goorbergh B C M Diana, de Witte Pauline M, van Schooneveld Mary J, Rothova Aniki
Erasmus MC, Rotterdam.
Ned Tijdschr Geneeskd. 2015;159:A8039.
Autoimmune retinopathy (AIR) is a rare disorder which may present as a paraneoplastic syndrome. AIR is associated with the presence of anti-retinal antibodies. These antibodies are assumed to cause damage to the retina, resulting in progressive vision loss.
A 74-year-old man visited the ophthalmologist with a serious, progressive loss of vision, without any noteworthy abnormalities at routine ophthalmological examination. The electroretinogram was characteristic of loss of photoreceptor function. Anti-retinal antibodies against recoverin were detected in serum. After referral to an internist on account of a suspected diagnosis of paraneoplastic AIR, the patient was diagnosed with a lung carcinoma, confirming the diagnosis of cancer-associated paraneoplastic AIR.
An unexplained loss of vision is highly suggestive of paraneoplastic AIR, even in patients without a known malignancy. Laboratory techniques for the detection of the anti-retinal antibody against recoverin have recently been implemented in the Netherlands, facilitating the diagnosis of AIR.
自身免疫性视网膜病(AIR)是一种罕见疾病,可能表现为副肿瘤综合征。AIR与抗视网膜抗体的存在有关。这些抗体被认为会对视网膜造成损害,导致视力逐渐丧失。
一名74岁男性因严重的、进行性视力丧失就诊于眼科医生,常规眼科检查未发现任何值得注意的异常。视网膜电图显示为光感受器功能丧失的特征。血清中检测到针对恢复蛋白的抗视网膜抗体。由于疑似副肿瘤性AIR而转诊至内科医生后,该患者被诊断为肺癌,从而确诊为癌症相关性副肿瘤性AIR。
即使在没有已知恶性肿瘤的患者中,不明原因的视力丧失也高度提示副肿瘤性AIR。荷兰最近采用了检测针对恢复蛋白的抗视网膜抗体的实验室技术,有助于AIR的诊断。