帕金森病(Parkinson’s disease, PD)作为仅次于阿尔茨海默病的第二大神经退行性疾病,其眼部表现近年来逐渐成为跨学科研究热点。以往医生多关注运动迟缓、静止性震颤和肌强直等PD典型症状,但大量临床研究表明,眼睑异常、眼球运动障碍、视觉功能异常等眼部表现不仅普遍存在于PD患者中,更可能在典型运动症状出现前就已显现。长期以来,这些眼部症状因其他症状的掩盖往往被忽视,进一步降低了患者的生活质量。本综述系统梳理PD患者眼部表现的三大方面:首先,眼睑异常方面,PD患者瞬目频率降低,61.1%患者出现干眼症状,导致PD患者的生活质量进一步下降。其次,眼球运动障碍表现为特征性的阶梯式方波急跳、集合功能减退以及反向扫视错误率增加,其中反向扫视潜伏期延长对步态冻结的发生具有预测价值。最后,视觉功能障碍方面,PD患者可出现视敏度下降、色觉异常、对比敏感度受损和视幻觉。影像学检查观察到视网膜神经节细胞层变薄,伴随视网膜微血管密度降低,这些结构性改变与PD患者的视觉功能障碍有关,作为生物标志物具有独特潜力。神经内科-眼科联合诊疗模式不仅有助于PD的早期诊断和预后评估,更有助于临床医生全面理解PD的疾病机制和表现,为未来诊疗策略的优化提供客观依据。
Parkinson’s disease (PD), the second most common neurodegenerative disorder after Alzheimer’s disease, has increasingly garnered interdisciplinary research attention due to its ocular manifestations. While the classical triad of motor symptoms—bradykinesia, resting tremor, and rigidity—remains the diagnostic hallmark, accumulating clinical evidence indicates that ocular abnormalities, including eyelid dysfunction, oculomotor disturbances, and visual impairments, are not only prevalent in PD patients but may also precede the onset of typical motor symptoms. Historically overlooked due to masking by other clinical features, these ocular manifestations contribute to the deterioration of patients' quality of life. This review systematically examines PD-related ocular abnormalities across three key domains: First, eyelid dysfunction manifests as reduced blink frequency, with 61.1% of PD patients reporting dry eye symptoms, further exacerbating their life quality impairment. Second, oculomotor disturbances are characterized by staircase-pattern square-wave jerks, convergence insufficiency, and increased error rates in antisaccade tasks, with prolonged antisaccade latency serving as a predictive marker for freezing of gait. Third, visual dysfunction encompasses diminished visual acuity, dyschromatopsia, impaired contrast sensitivity, and visual hallucinations. Imaging studies reveal structural alterations such as retinal ganglion cell layer thinning and reduced retinal microvascular density, which correlate with visual deficits and hold promise as potential biomarkers. The establishment of a neuro-ophthalmological collaborative framework not only facilitates early PD diagnosis and prognostic assessment but also enhances clinicians' comprehensive understanding of disease mechanisms. Such an approach provides an objective foundation for optimizing future therapeutic strategies.
文章报道了一例5岁女性Dandy-Walker综合征(Dandy-Walker syndrome,DWS)患儿的临床表现、眼科检查及影像学特征。该患儿在确诊DWS后行后颅窝蛛网膜囊肿部分切除术,然而术后视力仍进行性下降,眼科随访过程中发现视网膜神经纤维层(Retinal Nerve Fibers Layer,RNFL)进行性变薄,提示颅内压尚未有效控制,视神经损害在进一步发展。由于DWS病变位置特殊性,头颅磁共振成像(Magnetic Resonance Imaging,MRI)及常规腰椎穿刺未能确定幕上颅内高压,后经侧脑室直接测压,证实仍然存在颅压异常增高。行右侧脑室-腹腔分流术后,患儿双眼视力有所提高,双眼RNFL)厚度无继续变薄。目前DWS的治疗方式包括后颅窝囊肿切除术、脑脊液分流术及内镜下第三脑室造瘘术。 术后DWS患者的颅内压的测量有特殊性,幕上与幕下区域之间的脑实质内压力可能形成显著的压力梯度,腰椎穿刺测压可能无法准确反映颅内压,脑室内测压方法则创伤更大。此时需要眼科检查提供支持颅内高压的证据,如RNFL厚度进行性下降、视盘水肿及视网膜血管形态异常,这些检查无创、简便、可多次重复,是临床医生评估颅内压的有效手段,建议纳入DWS患者术后颅内压的常规管理中。
This article reports the clinical presentation, ophthalmologic examination, and imaging features of a 5-year-old girl with Dandy-Walker syndrome (DWS). She underwent partial resection of an arachnoid cyst in the posterior cranial fossa after the diagnosis of DWS. However, her visual acuity continued to deteriorate after the surgery, and the ophthalmologic follow-up revealed progressive thinning of the retinal nerve fibers layer (RNFL), suggesting that the intracranial pressure (ICP) had not yet been effectively controlled, and the damage to the optic nerve was further developing. However, due to the special pathological changes of DWS, MRI and routine lumbar puncture was not able to exactly identify the supratentorial ICP, subsequent ICP measurement through the lateral ventricle confirmed that increased ICP was still existed. After performing a right ventriculoperitoneal shunt, the child's binocular vision improved, and the thickness of the RNFL in both eyes remained stable. Current treatment modalities for DWS include cystectomy, cerebrospinal fluid shunt and endoscopic third ventriculostomy. The measurement of postoperative ICP in DWS patients is complicated, because there may be a significant pressure gradient between the supratentorial and infratentorial regions, which is not accurately reflected by lumbar puncture manometry, and intraventricular manometry is much more invasive. Ophthalmologic examinations including progressive decrease in RNFL thickness, optic disc edema, and abnormal retinal vascular morphology are required to provide evidences of increased ICP. These examinations are noninvasive, simple, and repeatable. They are an effective means of assessing ICP, and are recommended to be included in the routine management of ICP in patients with DWS after surgery.
目的:探讨多发性大动脉炎的全身表现及眼部临床表现,提高眼科医生对大动脉炎的诊治能力。方法:采用回顾性病例系列研究。收集2018年3月至2022年5月山东第一医科大学附属省立医院风湿免疫科确诊后、经眼科会诊或治疗的大动脉炎患者14例,总结患者的全身表现、眼部临床表现及治疗结果。结果:14例多发性大动脉炎患者中,男性1例、女性13例,年龄(35.57±9.77)岁。其中,Ⅰ型头臂动脉型7例(50%),Ⅱ型胸腹主动脉型2例(14.3%),Ⅲ型肺动脉型0例,Ⅳ型广泛型5例(35.7%)。85.7%病例累及头臂动脉干。患者全身表现多样,最常见的是上肢低血压相关表现,4例发生严重的心脑血管并发症(28.6%)。5例(35.6%)患者以眼部症状为首发表现,3眼曾误诊为“白内障”(21.4%)。患者最佳矫正视力为无光感~1.0,其中,21眼最佳矫正视力为1.0(占75%),4眼最佳矫正视力<0.1(占14.3%)。眼部检查正常者4眼(14.3%),其余24眼(85.7%)均存在眼部异常。晶体异常、结膜巩膜血管扩张充血及瞳孔散大是最常见的眼前节表现。眼底表现以低灌注性视网膜病变为主(20眼,71.4%),高血压视网膜病变4眼(14.3%)。与Ⅱ型患者比较,Ⅰ型患者更容易发生低灌注性视网膜病变。缺血导致的异常动静脉交通及视盘旁花冠状血管是最典型的眼底表现,严重者导致新生血管形成、增殖性玻璃体视网膜病变和视网膜脱离。所有患者经糖皮质激素和免疫抑制剂治疗,眼部行视网膜光凝及抗血管内皮生长因子(anti-vascular endothelial growth factor,anti-VEGF)药物治疗后,3眼视网膜病变仍有进展,其余患者病情稳定。结论:多发性大动脉炎是一种临床相对比较少见的慢性血管炎性阻塞性病变,年轻女性多发。本组病例以累及头臂动脉干为主,眼部受累概率高,缺血性眼前节表现是较容易被识别的体征,低灌注性视网膜病变是最典型的眼底表现,并可能引发严重的眼部并发症。眼科医生应提高对多发性大动脉炎的认识和诊断能力,并重视对大动脉炎患者的详细眼部检查。
Objective: To discuss the systemic and ocular manifestations of patients with multiplex Takayasu arteritis (TA) and improve the ability of ophthalmologists to diagnose and treat TA. Methods: Retrospective case series study was used. From March 2018 to May 2022, a total of 14 TA patients were admitted to the Department of Rheumatology and Ophthalmology in Shandong Provincial Hospital Affiliated to Shandong First Medical University. They were diagnosed by ophthalmology consultation and treated in the Department of Rheumatology and Immunology. Their systemic manifestations, ocular clinical manifestations, and treatment outcomes were summarized. Results: There were 13 female patients and 1 male patient in our TA cohot. Mean age was (35.57±9.77) years. The most common classification of TA was 7 cases of type I (50%). Others were type II (2 cases of Abdominal aorta and/or renal arteries involved, 14.3%) and 5 cases of type IV (combination of type I and type II, 35.7%), 0 cases of type III. The most common location of involvement was brachiocephalic arterial trunk (85.7%). TA patients had a variety of systemic manifestations, the most common was upper extremity hypotension-related manifestations. Severe cardiovascular and cerebrovascular complications occurred in 4 patients (28.6%). Ocular abnormal was the initial manifestation in 5 patients (35.6%), and 3 eyes were misdiagnosed as cataract (21.4%). Best corrected visual acuity (BCVA) of the TA patients was -1.0 with no light perception, among with 21 eyes had 1.0 (75%) and 4 eyes had a BCVA less than 0.1 (14.3%). Only 4 eyes were totally normal (14.3%) and the remaining 24 eyes (85.7%) had ocular abnormalities. Lens opacity, chronic scleral hyperemia and dilated pupil were the most frequent manifestations in ocular anterior segment. Fundus manifestations were dominated by hypoperfusion retinopathy (20 eyes, 71.4%) and 4 eyes suffered from hypertensive retinopathy (14.3%). Patients with Type I had a higher prevalence for developing hypoperfusion retinopathy than type II patients. Ischemia-induced fiscrete arteriovenous shunt and wreath-like anastomosis around the optic disc were the most typical fundus manifestations. Retinal neovascularization, proliferative vitreoretinopathy and retinal detachment were the most serious retinal complications. Corticosteroids and immunosuppressive agents were administered in all the patients. Most of the patients remained stable, while progression of retinopathy still could be seen in 3 eyes even after pan-retinal photocoagulation and intravitreal injection of anti-VEGF drug treatemnt. Conclusions: TA is a relatively rare chronic vasculitic obstructive lesion that occurs more often in young women. This group of cases mainly involved brachiocephalic artierial trunk. TA has a high possibility of ocular involvement and may lead to various ocular abnormalities. Anterior segment manifestations secondary to ischemia were the relative recognizable signal for diagnosis of TA. Hypoperfusion retinopathy was the most common fundus manifestations, and might cause serious ocular complications. Ophthalmologists should improve awareness and diagnostic capacity for multiple TA and value the detailed eye examination of TA patients.
眼可受全身系统性疾病的累及,通过眼部表现可对心血管系统性疾病、神经系统疾病、自身免疫性疾病、感染性疾病及药物相关眼病等全身疾病进行评估、协助诊断和随访观察。重视全身疾病在眼部的表现,对于眼科及相关专业临床诊疗水平的提升具有重要意义。
Eyes can be affected by systemic diseases. Ocular manifestations can be used to evaluate, help to diagnose and observe systemic diseases including cardiovascular diseases, neurological disorders, autoimmune diseases, infectious diseases and drug-related eye diseases. Paying attention to the manifestations of systemic diseases in the eye is of great significance for the improvement of clinical diagnosis and treatment in ophthalmology and related specialties.