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探索遗传图谱:视网膜色素变性治疗新策略的全面综述

Navigating the Genetic Landscape: A Comprehensive Review of Novel Therapeutic Strategies for Retinitis Pigmentosa Management.

作者信息

Pawar Yuga B, Thool Archana R

机构信息

Ophthalmology, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Wardha, IND.

出版信息

Cureus. 2024 Aug 16;16(8):e67046. doi: 10.7759/cureus.67046. eCollection 2024 Aug.

Abstract

Retinitis pigmentosa (RP) is a collection of retinal disorders characterized by the progressive degeneration of photoreceptor cells, leading to significant visual impairment and, in severe cases, blindness. RP affects individuals worldwide and can be inherited through various genetic patterns, making it a genetically diverse condition. Despite considerable advancements in diagnostic methods and supportive therapies, there is currently no cure for RP. The focus of existing management strategies is on slowing the progression of the disease and improving the quality of life for those affected. This comprehensive review explores the latest therapeutic approaches in the management of RP, highlighting advancements in genetic therapies, such as gene augmentation and editing, as well as cell-based treatments including stem cell transplantation and induced pluripotent stem cell (iPSC) technologies. Emerging methods like optogenetics and pharmacological interventions designed to preserve retinal function are also discussed. Additionally, the review examines technological innovations, including retinal prosthetics and the use of artificial intelligence, which hold the potential to revolutionize RP treatment. The challenges and limitations associated with these novel therapies, such as safety concerns, accessibility issues, and regulatory hurdles, are critically evaluated. By providing an overview of current research and future directions, this review aims to inform clinicians and researchers about the state of the art in RP treatment and the prospects for achieving significant therapeutic advancements.

摘要

视网膜色素变性(RP)是一组视网膜疾病,其特征是光感受器细胞进行性退化,导致严重的视力损害,严重时可导致失明。RP影响着世界各地的人群,可通过多种遗传模式遗传,使其成为一种具有遗传多样性的疾病。尽管在诊断方法和支持性治疗方面取得了相当大的进展,但目前尚无治愈RP的方法。现有管理策略的重点是减缓疾病进展,提高患者的生活质量。这篇综述探讨了RP治疗的最新方法,重点介绍了基因治疗的进展,如基因增强和编辑,以及基于细胞的治疗方法,包括干细胞移植和诱导多能干细胞(iPSC)技术。还讨论了光遗传学和旨在保护视网膜功能的药物干预等新兴方法。此外,该综述还研究了技术创新,包括视网膜假体和人工智能的应用,这些创新有可能彻底改变RP的治疗方式。对这些新疗法相关的挑战和局限性,如安全问题、可及性问题和监管障碍进行了批判性评估。通过概述当前的研究和未来方向,本综述旨在让临床医生和研究人员了解RP治疗的最新进展以及取得重大治疗进展的前景。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4f8a/11405069/5ff5f1cbc219/cureus-0016-00000067046-i01.jpg

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