PDF(Pubmed)
Abstract：
Retinitis Pigmentosa is a leading cause of severe vision loss. Retinitis Pigmentosa can present with a broad range of phenotypes impacted by disease age of onset, severity, and progression. This variation is influenced both by different gene mutations as well as unique variants within the same gene. Mutations in the nuclear hormone receptor 2 family e, member 3 are associated with several forms of retinal degeneration, including Retinitis Pigmentosa. In our previous studies we demonstrated that subretinal administration of one Nr2e3 dose attenuated retinal degeneration in rd7 mice for at least 3 months. Here we expand the studies to evaluate the efficacy and longitudinal impact of the NR2E3 therapeutic by examining three different doses administered at early or intermediate stages of retinal degeneration in the rd7 mice. Our study revealed retinal morphology was significantly improved 6 months post for all doses in the early-stage treatment groups and for the low and mid doses in the intermediate stage treatment groups. Similarly, photoreceptor function was significantly improved in the early stage for all doses and intermediate stage low and mid dose groups 6 months post treatment. This study demonstrated efficacy in multiple doses of NR2E3 therapy.
摘要：
色素性视网膜炎是严重视力丧失的主要原因。色素性视网膜炎可呈现广泛的表型，受发病年龄的影响，严重程度,和进步。这种变异受不同基因突变以及同一基因内独特变异的影响。核激素受体2家族e的突变，成员3与几种形式的视网膜变性有关，包括色素性视网膜炎.在我们先前的研究中,我们证明了视网膜下施用一种Nr2e3剂量减轻rd7小鼠的视网膜变性至少3个月。在这里，我们通过检查rd7小鼠视网膜变性早期或中期施用的三种不同剂量来扩大研究以评估NR2E3治疗的功效和纵向影响。我们的研究显示，早期治疗组的所有剂量以及中期治疗组的低剂量和中等剂量的视网膜形态在6个月后均有显着改善。同样，在治疗后6个月，所有剂量和中期低剂量和中剂量组的早期光感受器功能均得到显着改善。该研究证明了多剂量NR2E3治疗的功效。
