RETINOGEOGRAPHIC DISTRIBUTION OF SECRETED RETINOSCHISIN

这个子项目是许多研究子项目中利用 资源由NIH/NCRR资助的中心拨款提供。子项目和 调查员(PI)可能从NIH的另一个来源获得了主要资金， 并因此可以在其他清晰的条目中表示。列出的机构是 该中心不一定是调查人员的机构。 X连锁视网膜劈裂症(XLRS)是一种遗传性视网膜变性，影响年轻男性。它是由正常视网膜功能所必需的基因(视黄醇或RS1)突变引起的。病人在婴儿期或学龄期视力不佳。视力通常在青少年时期恶化，然后稳定下来，直到成年后并发玻璃体出血或视网膜脱离。在之前对XLRS啮齿动物模型的研究中，AAV-RS1基因治疗载体的治疗导致视网膜功能的渐进性和长期改善，并防止视网膜细胞退化。该项目正在测试AAV-RS1载体在非人类灵长类动物视网膜下注射的安全性和生物分布，这是这一潜在挽救视力的新疗法计划进行人类临床试验之前的关键最后一步。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. X-linked retinoschisis (XLRS) is an inherited form of retinal degeneration affecting young males. It is caused by mutations in a gene (retinoschisin or RS1) that is required for normal retinal function. Patients present with poor vision in infancy or at school age. Visual acuity usually worsens during the teenage years and then stabilizes until complicated by vitreous hemorrhage or retinal detachment during adulthood. In a previous study in a rodent animal model of XLRS, treatment with an AAV-RS1 gene therapy vector resulted in progressive and long-term improvement in retinal function and prevention of retinal cell degeneration. This project is testing the safety and biodistribution of AAV-RS1 vector injected subretinally in nonhuman primates, as a critical final step prior to a planned human clinical trial of this potentially sight-saving new therapy.