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.
外伤、感染、先天性疾病等均可能破坏角膜的组织结构和细胞稳态，同时造成角膜干细胞缺损，进而导致组织无法正常愈合，引起角膜盲，是世界范围内致盲的重要原因之一。目前已有多种干细胞相关的技术方法应用于重建功能性角膜组织，取得了瞩目的治疗效果。本综述以角膜缘干细胞缺乏症为主，旨在介绍多种来源的干细胞在角膜重建中的研究现状和最新进展，同时对不同干细胞的特异性标志物的研究进展进行阐述。
Trauma, infection and congenital diseases may disrupt the tissue structure and cellular homeostasis of the cornea, while causing impaired function of corneal stem cell defects, which in turn may even lead to corneal blindness caused by the inability of the tissue to heal properly. Corneal blindness is one of the major causes of blindness worldwide. Several stem cell-related techniques have been applied to reconstruct functional corneal tissue with impressive therapeutic results. This review focuses on corneal limbal stem cell deficiency and aims to present the current status and recent progress of research on stem cells from multiple sources in corneal reconstruction, as well as to describe specific markers of corneal stem cells.
Ahmed青光眼引流阀植入术作为难治性青光眼的主要治疗方案，能很大程度控制眼压，且疗效和预后均优于常规滤过性手术。但是远期引流盘周围被纤维包裹后会阻塞房水流出，引起术后高眼压，导致手术失败。因此，解决引流盘纤维包裹能很大程度地提高青光眼阀植入术后远期成功率，这也是目前的研究热点。目前临床上主要采用术前预防及术后二次操作对纤维包裹进行干预，但长期效果欠佳。本文就青光眼引流阀纤维包裹发生的组织病理学及分子机制、临床目前解决方案、前沿研究进展以及对Ahmed青光眼阀门的材料改造的探索进行综述。
Ahmed glaucoma valve implantation, as the main treatment option for refractory glaucoma, can control intraocular pressure (IOP) to a large extent. And its efficacy and prognosis are superior to those of conventional filtration surgery. IOP is well-controlled in the early postoperative stages. However, long-term fibrosis of encapsulated bleb inhibits fluid exchange and causes elevated IOP, leading to surgical failure. Therefore, treating fibrosis of encapsulated bleb can improve the long-term success rate after glaucoma valve implantation, which is also a research hotspot. Currently, the main clinical interventions are preoperative prophylaxis and postoperative secondary operations for fiber wrapping, but its long-term efficacy is not satisfactory. This article reviews the occurrence, histopathology and molecular mechanism of fibrous encapsulation, treatment in a clinical setting, cutting-edge research progress, and exploration on material modification of Ahmed glaucoma valve.
脂质代谢异常是糖尿病性视网膜病变可能的危险因素。糖尿病性视网膜病变被认为是致盲的主要原因。近年来研究认为总胆固醇、三酰甘油等血脂与糖尿病性视网膜病变及糖尿病黄斑水肿的进展有关，降脂药物的应用能够延缓糖尿病性视网膜病变进展。随着色谱分离和质谱分析等脂质组学分析方法的发展，除了常规的血清脂质标志物以外的各种脂质成分也被发现可能与糖尿病性视网膜病变进展有关。现总结脂质及其衍生物在糖尿病性视网膜病变发病机制中的作用，阐述糖尿病性视网膜病变脂质代谢治疗的潜在靶点和前景。
Abstract Abnormal lipid metabolism is a possible risk factor for diabetic retinopathy. Diabetic retinopathy is considered to be the main cause of blindness. In recent years, studies have shown that serum lipids, such as total cholesterol, triglycerides, are related to the progress of diabetic retinopathy and diabetic macular edema, and lipid-lowering drugs can delay the progress of diabetic retinopathy. With the development of lipidomics analysis methods such as chromatographic separation and mass spectrometry, lipid components other than conventional serum lipid markers have also been found to be related to the progression of diabetic retinopathy. The review summarizes the role of lipids and their derivatives in the pathogenesis of diabetic retinopathy, and highlights the potential targets and prospects of lipid metabolism treatment for diabetic retinopathy.
单纯疱疹病毒基质型角膜炎是引起角膜盲的主要原因之一，目前以局部使用糖皮质激素联合口服抗病毒药物治疗为主。传统治疗存在生物利用度低、药物不良反应等缺点，因此亟需寻找替代药物、开发新剂型。环孢素A和他克莫司等免疫抑制剂疗效明显、不良反应少，可能是糖皮质激素的潜在替代品。α干扰素联合阿昔洛韦可缩短病程，而单独使用效果有限。基质再生剂具有新的抗病毒机制，值得进一步研究。此外，纳米载体递送系统，如脂质体、纳米胶束、立方液晶纳米粒，由于能够增强药物角膜穿透性和延长药物释放，在治疗基质型单纯疱疹性角膜炎方面具有巨大潜力。
Herpes simplex virus stromal keratitis is one of the leading causes of corneal blindness. A topical corticosteroidagent in conjunction with an oral antiviral agent is the preferred treatment, which has the disadvantages of low bioavailability and drug side effects. Therefore, there is an urgent need to find alternative drugs and develop new dosage forms. Immunosuppressants such as cyclosporine A and tacrolimus have obvious curative effects and few side effects, and may be potential substitutes for glucocorticoids. Interferon-α combined with acyclovir can shorten the course of disease, but the effect is not obvious when used alone. Matrix regenerating agents have new antiviral mechanisms and deserve further study. In addition, nanocarriers delivery systems, such as liposomes, nanomicelles and cubosomes, have great potential in the treatment of herpes simplex virus stromal keratitis due to their ability to enhance drug corneal penetration and prolong drug release.
晚期糖尿病(diabetes mellitus，DM)患者常出现的糖尿病性视网膜病变能够被发现，而糖尿病性角膜病变(diabetic keratopathy，DK)却时常被人们忽略。近年来的许多研究表明，DK对角膜的结构、代谢、生理功能等多个方面均有重要影响。目前临床上尚无根治DK的有效疗法，现主流疗法多集中于对症治疗以维持光滑湿润的眼表，最大限度地减少视觉损失以及提高舒适度，如局部滴用人工泪液、使用角膜绷带镜及局部使用抗炎药物等，但这些现有的治疗方法对于角膜组织损伤的修复能力有限。近年来出现神经生长因子、胰岛素疗法等新兴的治疗方法，有望未来应用于临床。
The diabetic retinopathy which often occurs in patients with advanced diabetes mellitus (DM) can usually be realized, but diabetic keratopathy (DK) could sometimes be ignored. In recent years, many studies have found out that DK can cause significant abnormal changes in many ways, including structure, metabolism and physiological functions of the cornea. At present, there is no effective therapy to cure DK. The current mainstream therapy mostly focuses on symptomatic treatment to maintain a smooth and moist ocular surface, minimize visual loss and improve comfort, such as local drip of artificial tears, use of corneal bandage lens and local use of anti-inflammatory drugs. However, these existing treatment methods have limited repair ability for corneal tissue damage. In recent years, a number of new treatment methods have emerged, which are expected to be clinically used in the future, such as nerve growth factors and insulin therapy.
视神经脊髓炎谱系疾病(neuromyelitis optica spectrum disorders，NMOSD)是一种中枢神经系统炎性脱髓鞘性疾病，以视神经、脊髓和大脑受累为主要特征，该疾病易复发且致盲、致残率高，严重威胁人类视力和健康。目前NMOSD病因尚不明确，现有治疗方案也无法彻底治愈NMOSD，而动物模型是探索其发病机制与病理生理特点的重要工具。NMOSD动物模型主要建立在抗水通道蛋白4抗体(anti-aquaporin 4 immunoglobulin G，AQP4-IgG)致病基础上，主要包括破坏或绕过血脑屏障(blood brain barrier，BBB)被动转移AQP4-IgG或AQP4特异性T细胞等，目前还没有一种动物模型可以完整模拟人类NMOSD的临床和病理特征，因此在研究中选择合适的动物模型对相关研究至关重要。
Neuromyelitis optica spectrum disorders (NMOSD) is an inflammatory demyelinating disease of the central nervous system. It is mainly characterized by the involvement of the optic nerve, spinal cord and brain. The disease is prone to relapse and has a high rate of blindness and disability, which seriously threatens human vision and health. At present, the etiology of NMSOD is not clear, and the existing treatment schemes can’t completely cure NMOSD. Animal models are important tools to explore its pathogenesis and pathophysiological characteristics. NMOSD animals were mainly established on the basis of anti-aquaporin 4 immunoglobulin G (AQP4-IgG), including destroying or bypassing the blood-brain barrier and passively transferring AQP4-IgG or AQP4 specific T cells. At present, no animal model can completely simulate the clinical and pathological characteristics of human NMOSD. Therefore, it is important to select appropriate animal models for the study. This article reviews various animal models of NMOSD in recent years, and discusses the advantages and disadvantages of various models, in order to provide references for the study of the progress and treatment of NMOSD.
近年来人工智能(artificial intelligence，AI)技术在医学领域的应用发展迅猛，尤其在眼科领域，成果显著，极大地提高了相关影像数据的诊断效率，推动了该领域研究的进展。然而，大多数AI的应用都集中于成人眼病，在婴幼儿眼病方向的研究较少。究其原因，可能是婴幼儿眼部影像数据采集配合度低，部分影像设备应用受限，且相关领域专业眼科医生数量匮乏。然而，婴幼儿期是视觉发育最重要的阶段，也是出生缺陷早期筛防诊治的重灾区，对患儿的视觉发展具有长远且重要的影响，亟需AI相关产品提高婴幼儿眼病筛查效率，缓解医疗资源不足的现状。本文将对近年AI在婴幼儿眼病领域的研究应用现状、进展及存在的相关问题进行综述。
In recent years, the application of artificial intelligence (AI) in medicine, especially in ophthalmology, has developed rapidly with remarkable results. This has greatly improved the diagnostic efficiency of relevant imaging data and promoted further research in this field. However, most applications of AI are focused on adult eye diseases, and few studies have addressed infantile eye diseases. This may be because of the non-cooperative nature of infants, the limited availability of imaging equipment in infants, and the lack of pediatric ophthalmologists. Infancy is the most important stage of vision development. Disturbance during this period have a profound and lasting influence on vision development. Hence, early screening, diagnosis, and treatment of birth defects is important. AI-related products, which improves the efficacy of infant eye disease screening, are urgently needed. This paper reviews the current status, progress, and existing problems of recent research related to application of AI in infantile eye diseases.
幽门螺杆菌(Helicobacter pylori，H P)感染是中心性浆液性脉络膜视网膜病变(central serous chorioretinopathy，CSC)的一个危险因素，但是在HP感染和CSC相关性的研究仍存在争议，目前有两种观点：一是认为HP感染可能是CSC的一个危险因素，二是认为两者之间并没有相关性。本文将就对HP感染是否为CSC危险因素文献进行综述，同时探讨其发病机制。
Helicobacter pylori (HP) infection is a risk factor for central serous chorioretinopathy (CSC). But the existing studies tend to support two distinctively different trends regarding the link between HP infection and CSC. The first group tend to support that: HP infection may be a risk of CSC, and the second tend to claim to no correlation between the two. This paper will review the literature on whether HP infection is a risk factor for CSC and discuss its pathogenesis.
