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视网膜色素变性的当前认识:文献综述

Current understanding on Retinitis Pigmentosa: a literature review.

作者信息

Suleman Naning

机构信息

Department of Ophthalmology, Universitas Negeri Gorontalo, Gorontalo, Indonesia.

出版信息

Front Ophthalmol (Lausanne). 2025 Jun 12;5:1600283. doi: 10.3389/fopht.2025.1600283. eCollection 2025.

Abstract

Retinitis Pigmentosa (RP) refers to a group of inherited retinal disease, often leading to legal and sometimes complete blindness. It is estimated that over a million people are afflicted with RP all over the world and show tremendous genetic and phenotypic heterogeneity, involving over 90 genes in its causation. The present literature review intends to present a qualitative overview of the genetic mechanisms, clinical features, and diagnostic methods of RP, emphasizing genotype-phenotype correlation. Therapeutic advances in gene therapy, stem cell therapies, optogenetics, retinal prosthetics, and pharmacotherapy are reviewed, and the article notes the crucial role that next-generation sequencing has had in facilitating accurate diagnoses and tailored treatment strategies. While no curative treatments have been proposed, emerging therapeutic strategies are claimed to be effective in blunting disease advancement and maintaining or restoring visual function. Patients who are afflicted with RP often undergo a variety of both physical and mental difficulties, hence requiring several eventual, timely interventions for their social-emotional conflicts. This review aims to present insightful information about the paradigm shift in RP diagnosis and treatment, serving as a complete basis for clinicians and researchers working toward the management of retinal diseases.

摘要

视网膜色素变性(RP)是指一组遗传性视网膜疾病,常导致法定失明,有时甚至完全失明。据估计,全球有超过100万人患有RP,表现出巨大的遗传和表型异质性,其病因涉及90多个基因。本文献综述旨在对RP的遗传机制、临床特征和诊断方法进行定性概述,重点强调基因型与表型的相关性。综述了基因治疗、干细胞治疗、光遗传学、视网膜假体和药物治疗等方面的治疗进展,文章指出了下一代测序在促进准确诊断和量身定制治疗策略方面所起的关键作用。虽然尚未提出治愈性治疗方法,但新兴的治疗策略据称在延缓疾病进展以及维持或恢复视觉功能方面有效。患有RP的患者通常会经历各种身心困难,因此需要针对其社会情感冲突进行一些最终的及时干预。本综述旨在提供有关RP诊断和治疗范式转变的深刻见解,为致力于视网膜疾病管理的临床医生和研究人员提供完整的依据。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fd5a/12198980/9d28ccd0eaf0/fopht-05-1600283-g001.jpg

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