目的：回顾2型神经纤维瘤病(neurofibromatosis type 2, NF2)患者的眼部表现，分析NF2眼部病变的临床和影像学特征，以助该病的早期诊断。方法：收集来自深圳市眼科医院的1例和来自中山眼科中心的3例NF2患者完整的临床资料并进行总结分析。结果：这4例患者均因眼部异常首诊于眼科且符合曼彻斯特诊断标准。4例患者中，3例为NF2早发型(<20岁)，1例为晚发型(>20岁)，男女比例1∶1。3例患者因视力下降、1例患者因复视首诊于眼科。3例行眼底光学相干断层成像(optical coherence tomography, OCT)检查显示，视网膜错构瘤2例，视网膜前膜2例，视盘隆起2例，视网膜神经纤维层和节细胞层变薄1例。其他表现包括麻痹性斜视2例，复视1例，白内障1例，球后段视神经增粗1例，眼眶肿瘤1例。结论：NF2的眼部表现多种多样，可出现在神经症状和听力损失之前。详细的眼科检查及影像学检查对年轻患者的早期诊断非常有价值，有助于选择更好的治疗计划。

Objective: Review the ocular manifestations of patients with neurofibromatosis type 2 (NF2), and analyze the clinical and imaging features of the ocular lesions in NF2, so as to facilitate the early diagnosis of this disease. Methods: The complete medical records of 1 case from Shenzhen Eye Hospital and 3 cases of NF2 from Zhongshan Ophthalmic Center were collected. Results: All four patients were first diagnosed in ophthalmology due to eye symptoms and met the Manchester diagnostic criteria. Of the four patients, three were NF2 early hairstyles (<20 years old), one was late hairstyle (>20 years old), and the male-to-female ratio was 1:1. Three patients were first diagnosed in the ophthalmology department due to decreased visual acuity, and one patient was first diagnosed due to diplopia. Optical coherence tomography (OCT) examinations were performed on three patients, which showed that there were two cases of retinal hamartoma, two cases of epiretinal membrane, two cases of optic disc elevation, and one case of thinning of the retinal nerve fiber layer and ganglion cell layer. Other manifestations included two cases of paralytic strabismus, one case of diplopia, one case of cataract, one case of thickening of the retrobulbar optic nerve, and one case of orbital tumor. Conclusions: The ocular manifestations of NF2 are diverse and can precede neurological symptoms and hearing loss. Detailed ophthalmic examinations and imaging studies are highly valuable for early diagnosis in young patients, aiding in the selection of a better treatment plan.

患者，女，62岁，自觉右眼突出2年就诊，高血压3年。专科体格检查：右眼上睑退缩约1.5mm，左眼上睑下垂约2.5mm。提上睑肌肌力右眼13mm，左眼9mm。完善眼眶CT及头颅磁共振，未见异常。查阅文献，初步诊断为假性正负眼睑综合征。假性正负眼睑综合征符合赫林定律。通过左眼抬高试验发现右眼上睑退缩明显好转，安排左眼手术。术中发现左眼提上睑肌腱膜撕脱约7mm，故行左眼提上睑肌前徙复位术，术后双眼上睑均回归正常位置且两边对称。假性正负眼睑综合征最常见的病因是重症肌无力，其他原因还包括甲状腺相关眼病、先天性上睑下垂、动眼神经麻痹、老年性上睑下垂及上睑成形术并发症等。临床工作中需抓住疾病的蛛丝马迹，真正做到诊疗如棋、破局而立，使患者得到精准的治疗。

A 62-year-old female patient presented with right eye protrusion for 2 years and hypertension for 3 years. Physical examination showed that the upper eyelid retraction of the right eye was about 1.5 mm, and the ptosis of left eye was about 2.5 mm. The levator upper eyelid muscle strength was 13 mm in the right eye and 9 mm in the left eye. Orbital CT and cranial MRI were completed, and no abnormalities were found. A preliminary diagnosis of pseudo plus-minus lid syndrome was made by literature review. Pseudo plus-minus lid syndrome conforms to the Herring’s law. The upper eyelid retraction of the right eye was significantly improved by the left eye elevation test. During the left eye surgery, it was found that the left levator aponeurotic was avulsed about 7 mm. so the left levator aponeurosis was repositioned. After the operation, the upper eyelids of both eyes returned to the normal position and both sides were symmetrical. The most common cause of pseudo Plus—Minus Lid Syndrome is myasthenia gravis. Other causes include thyroid-associated ophthalmopathy, congenital ptosis, oculomotor nerve palsy, senile ptosis, and complications of blepharoplasty. In clinical work, we need to grasp the clues of the disease, truly achieve the diagnosis and treatment like chess, break the game and stand, so that patients can get accurate treatment.