自身免疫性脑炎与视网膜色素变性中从退化视网膜隔离的抗α-烯醇化酶抗体相关。
Autoimmune encephalitis associated with antibodies against α-enolase sequestrated from degenerating retina in retinitis pigmentosa.
作者信息
Zeng Qun, Lin Jin Ming, Syrrou Androniki, İnam Onur, Wesley Sarah Flanagan, Tezel Tongalp H
机构信息
Department of Ophthalmology, Vagelos College of Physicians and Surgeons, Edward S. Harkness Eye Institute, Columbia University Irving Medical Center, 622 West 168th Street, 18th Floor, Suite 18201B, Mailbox 200, New York, NY, 10032, USA.
City University of New York School of Medicine, New York, NY, USA.
出版信息
BMC Ophthalmol. 2025 Aug 12;25(1):456. doi: 10.1186/s12886-025-04302-6.
BACKGROUND
Retinitis pigmentosa is a group of inherited retinal degenerations resulting in photoreceptor cell dysfunction, death, and eventually vision loss. It can be a manifestation of Usher syndrome and has been linked with autoimmune retinopathy and systemic autoimmune diseases.
CASE PRESENTATION
We report the case of a 70-year-old woman with retinitis pigmentosa and Usher syndrome who presented with autoimmune encephalitis. Laboratory tests revealed the presence of α-enolase antibodies in the patient's serum and cerebrospinal fluid, which cross-reacted with the human brain and retina tissues.
CONCLUSIONS
We describe autoimmune encephalitis caused by autoantibodies against sequestrated retinal antigens in retinitis pigmentosa, which can cross-react with brain tissue. This unique case demonstrates the remote effects of retinitis pigmentosa and an autoimmune pathogenetic pathway that triggered autoimmune encephalitis. Several retinal antigens sequestered into systemic circulation with outer retinal degeneration in retinitis pigmentosa can evoke an immune response and thus produce auto-antibodies that can result in autoimmune encephalitis.
背景
视网膜色素变性是一组遗传性视网膜退行性疾病，可导致光感受器细胞功能障碍、死亡，并最终导致视力丧失。它可能是尤塞综合征的一种表现，并且与自身免疫性视网膜病变和全身性自身免疫性疾病有关。
病例报告
我们报告了一例70岁患有视网膜色素变性和尤塞综合征的女性患者，该患者出现了自身免疫性脑炎。实验室检查发现患者血清和脑脊液中存在α-烯醇化酶抗体，该抗体与人脑和视网膜组织发生交叉反应。
结论
我们描述了由针对视网膜色素变性中隔离的视网膜抗原的自身抗体引起的自身免疫性脑炎，该抗体可与脑组织发生交叉反应。这一独特病例展示了视网膜色素变性的远隔效应以及引发自身免疫性脑炎的自身免疫发病机制。视网膜色素变性中外层视网膜变性时隔离到体循环中的几种视网膜抗原可引发免疫反应，从而产生可导致自身免疫性脑炎的自身抗体。
Zotero 插件