[Inherited retinal disorders: Current therapeutic options and future perspectives].

IF 0.7 4区医学 Q4 OPHTHALMOLOGY

Klinische Monatsblatter fur Augenheilkunde Pub Date : 2025-07-23 DOI:10.1055/a-2521-4616

Kristina Pfau, Ulrich Kellner

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引用次数: 0

Abstract

Inherited retinal diseases (IRDs) represent a heterogeneous group of genetically driven conditions that frequently lead to progressive vision loss. Due to their complexity and the limited therapeutic options available, they pose a significant challenge for ophthalmology. This article provides a comprehensive overview of current evidence-based therapeutic approaches, including pharmacological strategies, gene therapy, and stem cell therapy, as well as innovative developments such as optogenetics and retinal implants. While gene therapies like Luxturna for RPE65-associated retinitis pigmentosa have paved the way for causal treatments, initial successes are also being observed in other retinal dystrophies, such as Stargardt disease and Usher syndrome. Rehabilitative measures and interdisciplinary care remain essential to improving the quality of life for affected individuals. Future research efforts focus on enhancing the efficacy and accessibility of therapies while addressing challenges such as inflammatory reactions, high costs, and genetic variability. The perspectives outlined highlight promising advancements in the treatment of genetic retinal diseases.

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[遗传性视网膜疾病：当前的治疗选择和未来的展望]。

遗传性视网膜疾病（IRDs）代表了一组异质性的遗传驱动条件，经常导致进行性视力丧失。由于它们的复杂性和有限的治疗选择，它们对眼科构成了重大挑战。本文提供了当前循证治疗方法的全面概述，包括药理学策略，基因治疗，干细胞治疗，以及创新发展，如光遗传学和视网膜植入物。虽然像Luxturna这样针对rpe65相关视网膜色素变性的基因疗法已经为因果治疗铺平了道路，但在其他视网膜营养不良症（如Stargardt病和Usher综合征）方面也取得了初步成功。康复措施和跨学科护理对于改善受影响个人的生活质量仍然至关重要。未来的研究重点是提高治疗的疗效和可及性，同时解决炎症反应、高成本和遗传变异等挑战。概述的观点强调了遗传性视网膜疾病治疗的有希望的进展。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Klinische Monatsblatter fur Augenheilkunde 医学-眼科学

CiteScore

1.30

自引率

0.00%

发文量

235

审稿时长

4-8 weeks

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