Stargardt病(STGD1,OMIM#248200)是最常见的遗传性黄斑营养不良，是由ABCA4基因突变引起的常染色体隐性遗传病。该病通常在儿童晚期或成年早期发病，导致视力进行性、不可逆地损害。近年研究者在STGD1临床和分子特征以及潜在的病理生理学方面取得的重大进展，促成了许多已完成的、正在进行的和计划中的新疗法的人体临床试验。文章聚焦于STGD1的基因治疗研究进展。STGD1基因治疗的主要障碍是ABCA4基因序列过长以及ABCA4基因在光感受器细胞中的特异性转导效率不高。解决这一问题的关键是研究出具有大运载量和能高效将ABCA4基因转导进光感受器细胞的载体。目前STGD1的基因治疗策略主要包括腺相关病毒(adeno-associated viral, AAV)载体、慢病毒载体、纳米颗粒、光遗传学和反义寡核苷酸等。随着研究的深入，未来有望开发出针对STGD1的有效基因治疗方法，为患者带来新的治疗希望。该综述为临床应用和科学研究提供了宝贵的参考和思路。
Stargardt disease (STGD1, OMIM#248200) is the most common hereditary macular dystrophy, caused by mutations in the ABCA4 gene, and is an autosomal recessive inherited disorder. The disease typically manifests in late childhood or early adulthood, leading to progressive and irreversible visual impairment. Significant advances in understanding the clinical and molecular characteristics, as well as the underlying pathophysiology, have ultimately facilitated numerous human clinical trials of new therapies that have been completed, are ongoing, and are planned. This review focuses on the progress in gene therapy research for STGD1. The primary obstacle in STGD1 gene therapy is the lengthy sequence of the ABCA4 gene and the low efficiency of specific transduction of the ABCA4 gene into photoreceptor cells. The key to addressing this issue is to develop a vector with a large carrying capacity that can efficiently transduce the ABCA4 gene into photoreceptor cells. Current gene therapy strategies for STGD1 mainly include adeno-associated viral (AAV) vectors, lentiviral vectors, nanoparticles, optogenetics, and antisense oligonucleotides(AONs). With the deepening of research, it is hoped that effective gene therapy methods for STGD1 will be developed in the future, bringing new therapeutic hope to patients. This review provides valuable references and ideas for clinical applications and scientific research.
目的：探讨耳穴压豆疗法预防眼底荧光血管造影(fluorescence fundus angiography，FFA)胃肠反应的效果。方法：选取2019年10月至2020年4月在汕头大学·香港中文大学联合汕头国际眼科中心特殊检查科行眼底荧光素血管造影检查的患者583例，实验组298例，对照组285例。对照组在检查前予常规护理措施。试验组检查前在对照组的基础上实施耳穴压豆疗法。比较两组受检者在检查期间的胃肠道反应情况及配合度和舒适度的区别。结果：试验组胃肠道反应发生率低于对照组(P<0.05)。配合度得分试验组为(2.87±0.35)分，对照组为(2.96±0.19)分，两组差异有统计学意义(P<0.001)。舒适度得分试验组为(3.93±0.70)分，对照组为(3.91±0.56)分，两组差异无统计学意义(P=0.122)。结论：耳穴压豆疗法可以降低FFA检查胃肠道反应发生率，疗效安全可靠，操作简便易行，另外，耳穴压豆方法不会造成患者检查时舒适度下降，有助于患者顺利安全完成检查。
Objective: To explore the prevention efficacy of auricular points plaster therapy on gastrointestinal reaction caused by fundus fluorescein angiography (FFA). Methods: We selected 583 patients who underwent fundus fluorescein angiography in the special examination department of our hospital from October 2019 to April 2020, and divided these patients into experimental group (n=298) and control group (n=285). The control group was given routine nursing measures before the examination. The experimental group was treated with auricular points plaster therapy on the basis routine nursing measures before the examination. The gastrointestinal reactions, degree of patient compliance and comfortableness during the examination were compared between the two groups. Results: The incidence of gastrointestinal reaction in the experimental group was lower than that of control group (P<0.05). The score of patient compliance degree was 2.87±0.35 in the experimental group and 2.96±0.19 in the control group, and there was a significant difference between the two groups (P<0.001). Degree of comfortableness was 3.93±0.70 in the experimental group and 3.91±0.56 in the control group. There was no significant difference between the two groups (P=0.122). Conclusion: Auricular points plaster therapy can reduce the incidence of gastrointestinal reaction caused by fundus fluorescein angiography, which is safe and reliable, easy to operate. In addition, the auricular points plaster therapy will not affect patient’s comfortness during examination, and will comply the patients to the examnination smoothly. is helpful for patients to complete the examination comfortably and safely
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.
