患儿因“左眼红肿12 d”就诊。左上睑红肿(++++)，眼眶鼻侧可触及约黄豆大小硬结，界不清，质地中等，压痛(?)，伴上睑下垂，遮盖角膜下缘。双眼眼位正，左眼眼球外转轻度受限。眼眶及视神经MRI显示左眼上睑软组织肿胀，考虑炎性改变。入院诊断为左眼特发性眼眶炎性假瘤(Idiopathic orbital inflammatory pseudotumor，IOIP)。予以激素治疗后症状好转且随访期间无复发。本例患儿为拒绝外院活检而就诊于暨南大学附属第一医院的小儿IOIP病例，提示早期规范治疗是降低此病复发率的关键，尤其是儿童患者。

The pediatric patient was referred to our hospital with a 12-day history of left eye redness and swelling. On the orbital and nasal side of the eye, there was a firm, nontender mass about the size of soybeans, with unclear boundary, medium texture. Orbital examination showed left ptosis, covering limbus. Motility examination revealed both eyes were in normal position, and the left eye was slightly limited in extraocular rotation. Magnetic resonance imaging (MRI) revealed evidence of diffuse inflammation of left eyelid, and orbital inflammatory was considered. Excluding other etiologies, the child was diagnosed initially with idiopathic orbital inflammatory. The symptoms improved after hormone therapy and there was no recurrence during follow-up. This case was a case of IOIP in a child who was admitted to the First Affiliated Hospital of Jinan University for refusing biopsy from another hospital. The paper suggests that early standardized treatment is the key to reduce the recurrence rate of this disease, especially in children.

目的：探究特发性黄斑前膜(idiopathic macular epiretinal membrane，IMEM)患者在光学相干断层扫描(optical coherence tomography，OCT)的形态学改变与视力的相关性。方法：回顾性研究。基于OCT图像4级分级方案，纳入3级及以下的特发性黄斑前膜患者35例共37只眼进行OCT扫描，并借助第三方软件分析并获取每只眼在黄斑中心凹直径分别为1、3、6 mm共3个同心圆区域内视网膜各层的平均厚度值，并按照是否存在内核层(inner nuclear layer，INL)囊样改变分为两组。通过建立最小分辨角对数(minimum resolution angle in logarithmic，logMAR)最佳矫正视力(best corrected vision acuity，BCVA)与视网膜各层厚度值的多元线性回归方程，以及比较有INL囊样改变及无INL囊样改变两组的视力，分析视力与视网膜各层厚度值及INL囊样改变的关系。结果：多元线性回归分析显示，在直径1 mm的区域内，logMAR BCVA与神经纤维层(retina nerve fiber layer，RNFL)、INL的厚度值均呈正相关(均P<0.05)，而在直径3 mm和6 mm的区域内，logMAR BCVA仅与INL的厚度值呈正相关(均P<0.05)。与无INL囊样改变组相比，有INL囊样改变组视力及INL厚度差异均有统计学意义(均P<0.05)。结论：特发性黄斑前膜患者当前的视力主要与RNFL和INL厚度值相关。发生在INL层的囊样改变可能很好的提示INL增厚，其与视力具有相关性，具有这种囊样改变的患者往往视力也较差。

Objective: To investigate the morphological changes detected by spectral domain optical coherence tomography (OCT) and their relevance to vision in patients with idiopathic macular epiretinal membranes (IMEM). Methods: This is a retrospective study. OCT recorded 37 eyes with stage 3 and below IMEM according to the 4-level grading system based on OCT images among 35 patients. We managed to obtain thickness of all retina layers in three concentric circular regions with a diameter of 1 mm, 3 mm and 6 mm across macular fovea with the help of a third-party software. Plus we divided all 37 eyes into two groups according to whether there were cystic changes in the inner nuclear layer (INL). Multiple linear regression analyses were performed between thickness of all retina layers and current minimum resolution angle in logarithmic (logMAR) best corrected visual acuity (BCVA). The difference of BCVA between groups with cystic changes and without was also compared. Thus, the relationships between visual acuity and thickness of retina layers, cystic changes in INL were analyzed. Results: Multiple linear regression analyses revealed that thickness of both retina nerve fiber layer (RNFL) and inner nuclear layer have positive correlation with logMAR BCVA in the region with a diameter of 1 mm (P<0.05), while in regions of a diameter of 3 mm and 6 mm, only INL thickness remained positively relevant (all P<0.05). There were significant differences in BCVA and thickness of INL between groups with INL cystic changes and without (all P<0.05). Conclusion: Current visual acuity among preoperative IMEM patients was mostly associated with thickness of RNFL and INL. Cystic change in INL layer may be a good indicator of INL thickening and was visually correlated. Those with this change tend to have worse vision.

特发性先天性眼球震颤(idiopathic congenital nystagmus，ICN)是一种常见的眼科疾病，患者常有明显的特征性的眼部异常，多伴有学习、社交障碍，对其身心健康影响较大。ICN遗传倾向明显，多表现为X染色体连锁(显性或隐性)，目前研究发现以FRMD7基因突变致病较为显著。近10余年来，国内外学者们在遗传学方面针对ICN和FRMD7基因做了大量的研究工作，取得了令人瞩目的结果。本文就2006年以来研究者们在FRMD7基因所致X连锁ICN的突变类型及位点作一总结，归纳并探讨FRMD7突变可能的致病机制，旨在为学者们提供以往研究结果的查证和未来研究方向的参考。

Idiopathic congenital nystagmus (ICN) is a common ophthalmic disease in which patients often have obvious and characteristic eye abnormalities. ICN patients are often accompanied by learning and social disorders, have a great impact on their physical and mental health. ICN which has an obvious genetic tendency and is mostly manifested as X chromosome linkage (dominant or recessive). Current studies have found that the mutation of FRMD7 gene is the most significant pathogenic factor. In the past 10 years, researchers have done a lot of work on the genetics of ICN and FRMD7 gene, and achieved remarkable results. This review summarizes the typ mutations caused by FRMD7 gene since 2006, and also discusses the possible pathogenesis of FRMD7 mutations, aiming to provide references for scholars to verify previous research results and future research directions.