From the State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.
Asia Pac J Ophthalmol (Phila). 2016 Jul-Aug;5(4):265-71. doi: 10.1097/APO.0000000000000227.
Retinitis pigmentosa is the most common form of hereditary retinal degeneration causing blindness. Great progress has been made in the identification of the causative genes. Gene diagnosis will soon become an affordable routine clinical test because of the wide application of next-generation sequencing. Gene-based therapy provides hope for curing the disease. Investigation into the molecular pathways from mutation to rod cell death may reveal targets for developing new treatment. Related progress with existing systematic review is briefly summarized so that readers may find the relevant references for in-depth reading. Future trends in the study of retinitis pigmentosa are also discussed.
色素性视网膜炎是最常见的遗传性视网膜变性致盲形式。在确定致病基因方面已经取得了很大进展。由于下一代测序的广泛应用，基因诊断很快将成为一种负担得起的常规临床检测。基于基因的治疗为治愈这种疾病提供了希望。对从突变到杆状细胞死亡的分子途径的研究可能会发现开发新疗法的靶点。简要总结了现有系统评价的相关进展，以便读者可以找到相关参考文献进行深入阅读。还讨论了色素性视网膜炎研究的未来趋势。
