Nair Praveena P, Keskar Manjiri P, Borghare Pramod T, Dzoagbe Hellen Y, Kumar Tanish
Otolaryngology, Mandsaur Institute of Ayurved Education and Research, Bhunyakhedi, IND.
Otolaryngology, Parul Institute of Ayurved, Parul University, Limda, IND.
Cureus. 2024 Aug 13;16(8):e66814. doi: 10.7759/cureus.66814. eCollection 2024 Aug.
Retinitis pigmentosa, or RP, is a group of inherited retinal degenerations involving progressive loss of photoreceptor cells- rods and cones- ultimately causing severe vision loss and blindness. RP, although a very common ailment, continues to be an incurable disease with little to be done medically. However, with the breakthroughs in gene therapy and stem cell transplantation in recent years, a new door has been opened to the treatment of RP. This narrative review summarizes the pathomolecular mechanisms of RP, focusing on the genetic and molecular abnormalities that lead to the process of retinal degeneration. In this section, we talk about the current theories of how RP develops, gene mutations, oxidative stress, and inflammation. We also delve into new therapeutic approaches such as gene therapy, stem cell transplantation and genome surgery, which are designed to either replace or repair the damaged photoreceptors to restore vision and ultimately enhance the life of the RP patient. Another topic covered is the obstacles and research frontiers of these revolutionary treatments. This article is intended to give a complete overview of the molecular processes of RP and the promising treatment strategies that could change the way this devastating disease is treated.
视网膜色素变性(RP)是一组遗传性视网膜退行性疾病,涉及光感受器细胞(视杆细胞和视锥细胞)的渐进性丧失,最终导致严重的视力丧失和失明。RP虽然是一种非常常见的疾病,但仍然是一种无法治愈的疾病,医学上几乎无能为力。然而,近年来随着基因治疗和干细胞移植的突破,为RP的治疗打开了一扇新的大门。这篇叙述性综述总结了RP的病理分子机制,重点关注导致视网膜变性过程的遗传和分子异常。在本节中,我们讨论了目前关于RP如何发展的理论、基因突变、氧化应激和炎症。我们还深入探讨了新的治疗方法,如基因治疗、干细胞移植和基因组手术,这些方法旨在替代或修复受损的光感受器以恢复视力,并最终改善RP患者的生活。涵盖的另一个主题是这些革命性治疗方法的障碍和研究前沿。本文旨在全面概述RP的分子过程以及有望改变这种毁灭性疾病治疗方式的治疗策略。