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：应用广角扫频源光学相干断层扫描成像(swept-source optical coherence tomography, SS-OCT)的en face结构投射图研究玻璃体早期液化特征。方法：使用SS-OCT进行18 mm×18 mm 的容积（Cube）扫描，创建并分析健康未成年人（年龄5~18岁）70眼的系列玻璃体en face结构投射图。 结果：在未成年人中，视网膜前的玻璃体包含4种液化结构，分别为后皮质前玻璃体囊袋（posterior precortical vitreous pocket, PPVP）、视盘前Martegiani区（the area of Martegiani, AM）、血管前液化裂隙（prevascular vitreous fissures，PVF）和液化池（cistern）。所有研究眼均能检出PPVP、AM和PVF，其中22眼（31.4%）的PPVP和AM连通。41眼（58.6%）可检出液化池，且其年龄大于未检出液化池的个体（P =0.01），液化池的发生与年龄呈正相关（r_s=0.315，P =0.008）。液化池的象限空间分布频率依次为颞上（90.2%）、鼻上（58.5%）、颞下（36.6%）、鼻下（24.4%），最常累及颞上象限（P＜0.001）。 结论：PPVP、AM和PVF是健康人群视网膜前玻璃体早期液化过程中均出现的特征。液化池的发生与年龄呈正相关，最常出现在颞上象限，可能是年龄相关性玻璃体液化变性的结果。

Objective: To investigate the early vitreous liquefaction characteristics using en face structural projection images obtained by wide-angle swept-source optical coherence tomography (SS-OCT). Methods: SS-OCT was employed to perform 18*18mm volumetric (Cube) scans. A series of en face structural projection images of the vitreous were created and analyzed for 70 eyes from healthy minors aged between 5 and 18 years. Results: In minors, four types of vitreous liquefaction structures were identified anterior to the retina: pre-posterior vitreous pocket (PPVP), the preoptic area of Martegiani (AM), pre-vascular liquefaction fissures (PVF), and cisterns. PPVP, AM, and PVF were detectable in all studied eyes, with PPVP and AM being interconnected in 22 eyes (31.4%). Cisterns were observed in 41 eyes (58.6%), and the mean age of individuals with cisterns was higher than those without (P =0.01). The occurrence of cisterns positively correlated with age (r=0.315; P=0.008). The frequency of cistern quadrant distribution was highest in the superotemporal quadrant (90.2%), followed by the superonasal quadrant (58.5%), inferotemporal quadrant (36.6%), and inferonasal quadrant (24.4%). The superotemporal quadrant was the most frequently affected (P <0.001). Conclusion: PPVP, AM, and PVF are features consistently observed in the early vitreous liquefaction process anterior to the retina in healthy individuals. The occurrence of cisterns positively correlates with age and is most common in the superotemporal quadrant, possibly representing the result of age-related vitreous liquefaction degeneration. These findings provide a theoretical foundation for studying the pathogenesis of vitreoretinal interface diseases.