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.