视网膜色素变性的最新认识:文献综述。

IF 0.9
Frontiers in ophthalmology Pub Date : 2025-06-12 eCollection Date: 2025-01-01 DOI:10.3389/fopht.2025.1600283
Naning Suleman
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引用次数: 0

摘要

色素性视网膜炎(RP)是指一组遗传性视网膜疾病,经常导致法定失明,有时完全失明。据估计,全世界有超过100万人患有RP,其遗传和表型异质性巨大,涉及90多个基因。本文对RP的遗传机制、临床特征和诊断方法进行定性综述,强调基因型与表型的相关性。本文回顾了基因治疗、干细胞治疗、光遗传学、视网膜修复术和药物治疗方面的治疗进展,并指出了下一代测序在促进准确诊断和定制治疗策略方面的关键作用。虽然没有提出根治性的治疗方法,但新兴的治疗策略据称在减缓疾病进展和维持或恢复视觉功能方面是有效的。患有RP的患者经常经历各种身体和精神上的困难,因此需要对他们的社会情感冲突进行一些最终的、及时的干预。这篇综述旨在提供关于RP诊断和治疗模式转变的深刻信息,为临床医生和研究人员在视网膜疾病管理方面的工作提供完整的基础。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Current understanding on Retinitis Pigmentosa: a literature review.

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.

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