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：评估EYESi手术模拟器在眼科医师专科培训玻璃体手术中的教学效果。方法：招募中山大学中山眼科中心进行专科医师规范化培训的15名学员，开展眼底手术培训课程，随机分为A组、B组、C组，每组各5名学员。以培训开始前进行初次视网膜脱离手术作为基础分数，除玻璃体后脱离项目、视网膜前膜及内界膜项目等基础练习内容外，A组仅接受双手剪刀训练，B组仅接受激光训练，C组同时接受双手剪刀训练及激光训练。最后所有学员再进行视网膜脱离手术项目作为最终考核成绩。记录下学员的每次得分和操作时间。结果：培训后学员视网膜脱离手术得分较培训前提高（P<0.001）。C组与A组学员最终视网膜脱离手术得分高于B组学员（P<0.05）。有内眼手术经验的学员初次视网膜脱离手术得分高于无内眼手术经验的学员，且手术时长低于无内眼手术经验的学员（P<0.05）。结论：EYESi手术模拟器能有效提高眼科医师的手术操作信心及玻璃体视网膜手术操作技能，双手剪刀训练模块是玻璃体视网膜手术培训中的重要模块。

Objective: To assess the instructional efficacy of the EYESi surgical simulator in training ophthalmology residents on vitreoretinal surgical procedures. Methods: Fifteen ophthalmology residents participating in standardized specialist training program at Zhongshan Ophthalmic Center, Sun Yat-sen University, were randomly assigned to three groups (A, B, C; n=5 per group). All participants underwent an initial baseline assessment through simulated retinal detachment surgery. In addition to standard training modules covering posterior vitreous detachment, anterior retinal membrane peeling, and inner limiting membrane manipulation, Group A received supplementary bimanual scissors training, Group B underwent laser training, and Group C received both types of advanced training. The final assessments were carried out using the same retinal detachment simulation, with performance scores and operation times carefully recorded. Results: Post-training surveys revealed significant increases in both trainees’ self-confidence and their self-assessed surgical proficiency. Objective performance scores for retinal detachment surgery showed marked improvement after training (P < 0.001). Groups C and A achieved significantly higher final scores compared to Group B (P < 0.05). Participants with prior intraocular surgical experience scored higher and completed procedures more quickly in the baseline assessment than those without such experience (P < 0.05). Conclusions: The EYESi simulator proves to be an effective tool for enhancing surgical skills and boosting operational confidence in vitreoretinal surgery training. In particular, bimanual instrumentation training offers significant educational value in the development of advanced microsurgical techniques.

        文章报道了一例5岁女性Dandy-Walker综合征（Dandy-Walker syndrome，DWS）患儿的临床表现、眼科检查及影像学特征。该患儿在确诊DWS后行后颅窝蛛网膜囊肿部分切除术，然而术后视力仍进行性下降，眼科随访过程中发现视网膜神经纤维层（Retinal Nerve Fibers Layer，RNFL)进行性变薄，提示颅内压尚未有效控制，视神经损害在进一步发展。由于DWS病变位置特殊性，头颅核磁共振成像（Magnetic Resonance Imaging，MRI）及常规腰椎穿刺未能确定幕上颅内高压，后经侧脑室直接测压，证实仍然存在颅压异常增高。行右侧脑室腹腔分流术后，患儿双眼视力有所提高，双眼RNFL）厚度无继续变薄。目前DWS的治疗方式包括后颅窝囊肿切除术、脑脊液分流术及内镜下第三脑室造瘘术。 术后DWS患者的颅内压的测量有特殊性，幕上与幕下区域之间的脑实质内压力可能形成显著的压力梯度，腰椎穿刺测压可能无法准确反映颅内压，脑室内测压方法则创伤更大。此时需要眼科检查提供支持颅内高压的证据，如RNFL厚度进行性下降、视盘水肿及视网膜血管形态异常，这些检查无创、简便、可多次重复，是临床医生评估颅内压的有效手段，建议纳入DWS患者术后颅内压的常规管理中。

This article reports the clinical presentation, ophthalmologic examination, and imaging features of a 5-year-old girl with Dandy-Walker syndrome (DWS). She underwent partial resection of an arachnoid cyst in the posterior cranial fossa after the diagnosis of DWS. However, her visual acuity continued to deteriorate after the surgery, and the ophthalmologic follow-up revealed progressive thinning of the retinal nerve fibers layer (RNFL), suggesting that the intracranial pressure (ICP) had not yet been effectively controlled, and the damage to the optic nerve was further developing. However, due to the special pathological changes of DWS, MRI and routine lumbar puncture was not able to exactly identify the supratentorial ICP, subsequent ICP measurement through the lateral ventricle confirmed that increased ICP was still existed. After performing a right ventriculoperitoneal shunt, the child's binocular vision improved, and the thickness of the RNFL in both eyes remained stable. Current treatment modalities for DWS include cystectomy, cerebrospinal fluid shunt and endoscopic third ventriculostomy. The measurement of postoperative ICP in DWS patients is complicated, because there may be a significant pressure gradient between the supratentorial and infratentorial regions, which is not accurately reflected by lumbar puncture manometry, and intraventricular manometry is much more invasive. Ophthalmologic examinations including progressive decrease in RNFL thickness, optic disc edema, and abnormal retinal vascular morphology are required to provide evidences of increased ICP. These examinations are noninvasive, simple, and repeatable. They are an effective means of assessing ICP, and are recommended to be included in the routine management of ICP in patients with DWS after surgery.