Department of Neurology and Ophthalmology, Michigan State University, East Lansing, Michigan, USA.
Curr Opin Ophthalmol. 2010 Nov;21(6):423-9. doi: 10.1097/ICU.0b013e32833eae4d.
Almost 100 years after its original description, sarcoidosis remains an enigmatic disease with unclear etiology and capricious symptomology, as well as a diagnostic challenge. This review coalesces current literature on the neuro-ophthalmic manifestations of sarcoidosis and discusses the epidemiology, etiology, clinical presentation, diagnosis, and management of this disease.
Recent investigations strongly identify a genetic component as well as a host of candidate antigenic triggers. Certain human leukocyte antigen polymorphisms may influence not only the susceptibility of individuals to sarcoidosis but also the course of the disease. Diagnostic advances include the finding of two additional potential biomarkers of sarcoidosis as well as the use of positron emission tomography technology in localization of disease sites for biopsy. In addition to the concomitant and alternative use of immunosuppressive agents to steroid therapy, disease remission in refractory neuro-ophthalmic sarcoidosis with tumor necrosis factor alpha inhibitors has also been reported.
Sarcoidosis can affect any part of the visual system; the most common neuro-ophthalmic presentation is optic neuropathy. Diagnosing the disease is problematic as the clinical presentation is nonspecific which may be associated with many other pathologies and no diagnostic finding is pathognomonic. In recent years, progress has been made in identifying new biomarkers and developing imaging techniques. Although corticosteroids remain the mainstay of therapy, many new pharmacological agents have been added to the treatment arsenal.
在最初描述近 100 年后，结节病仍然是一种神秘的疾病，其病因和症状表现尚不清楚，诊断也具有挑战性。本文汇集了结节病神经眼病表现的最新文献，并讨论了这种疾病的流行病学、病因、临床表现、诊断和治疗。
最近的研究强烈表明存在遗传成分和一系列候选抗原触发因素。某些人类白细胞抗原多态性不仅可能影响个体患结节病的易感性，还可能影响疾病的进程。诊断方面的进展包括发现了另外两种潜在的结节病生物标志物，以及正电子发射断层扫描技术在活检部位定位中的应用。除了同时或交替使用免疫抑制剂治疗皮质类固醇外，还报告了肿瘤坏死因子-α抑制剂治疗难治性神经眼病结节病的疾病缓解。
结节病可影响视觉系统的任何部位；最常见的神经眼病表现为视神经病变。诊断该疾病存在问题，因为临床表现不具特异性，可能与许多其他病理相关，且没有诊断发现是特征性的。近年来，在识别新的生物标志物和开发成像技术方面取得了进展。尽管皮质类固醇仍然是治疗的主要药物，但许多新的药物已被添加到治疗方案中。
