Sharif Najam A
Eye-APC Duke-NUS Medical School, Singapore 169857, Singapore.
Singapore Eye Research Institute, Singapore 169856, Singapore.
Pharmaceuticals (Basel). 2023 Jun 12;16(6):870. doi: 10.3390/ph16060870.
This review article focuses on the pathogenesis of and genetic defects linked with chronic ocular hypertension (cOHT) and glaucoma. The latter ocular disease constitutes a group of ocular degenerative diseases whose hallmark features are damage to the optic nerve, apoptotic demise of retinal ganglion cells, disturbances within the brain regions involved in visual perception and considerable visual impairment that can lead to blindness. Even though a number of pharmaceuticals, surgical and device-based treatments already exist addressing cOHT associated with the most prevalent of the glaucoma types, primary open-angle glaucoma (POAG), they can be improved upon in terms of superior efficacy with reduced side-effects and with longer duration of activity. The linkage of disease pathology to certain genes via genome-wide associated studies are illuminating new approaches to finding novel treatment options for the aforementioned ocular disorders. Gene replacement, gene editing via CRISPR-Cas9, and the use of optogenetic technologies may replace traditional drug-based therapies and/or they may augment existing therapeutics for the treatment of cOHT and POAG in the future.
这篇综述文章聚焦于慢性眼压升高(cOHT)和青光眼的发病机制及相关基因缺陷。后一种眼部疾病是一组眼部退行性疾病,其标志性特征是视神经损伤、视网膜神经节细胞凋亡性死亡、参与视觉感知的脑区紊乱以及可导致失明的严重视力损害。尽管已经有多种药物、手术和基于器械的治疗方法来应对与最常见的青光眼类型——原发性开角型青光眼(POAG)相关的cOHT,但在提高疗效、减少副作用和延长作用持续时间方面仍有改进空间。通过全基因组关联研究将疾病病理与某些基因联系起来,为寻找上述眼部疾病的新治疗选择开辟了新途径。基因替代、通过CRISPR-Cas9进行基因编辑以及光遗传学技术的应用,未来可能会取代传统的基于药物的疗法和/或增强现有的治疗方法来治疗cOHT和POAG。