视网膜遗传学的进展:进展、潜力和挑战。

IF 2.1 4区 医学 Q2 OPHTHALMOLOGY Indian Journal of Ophthalmology Pub Date : 2025-01-01 Epub Date: 2024-09-10 DOI:10.4103/IJO.IJO_3334_23
Mayank Bansal
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引用次数: 0

摘要

摘要:视网膜遗传学领域近来取得了显著进展,重塑了我们对各种视网膜疾病的认识,包括老年性黄斑变性、糖尿病视网膜病变和遗传性视网膜营养不良。本综述旨在概述视网膜遗传学的现状,包括已取得的进展、预期的未来发展以及有待克服的挑战。我们将重点介绍一些重要的进展,如下一代测序技术的出现,它极大地促进了基因突变的发现,从而也使个性化医疗/治疗方法成为可能。此外,我们还讨论了干细胞、基因扩增和基因编辑技术(如 CRISPR/Cas9),其中重点介绍了正在进行的研究及其在靶向治疗视网膜疾病方面的潜力。尽管取得了这些令人鼓舞的进展,但这一领域仍面临着重大挑战,如复杂的基因数据解读、伦理考虑以及从工作台到床边的转化差距。这篇综述不仅为眼科医生,也为其他医护人员、科学家和政策制定者提供了全面的指导,为快速发展的视网膜遗传学提供了深入的见解。它旨在促进进一步的研究与合作,以克服现有的挑战,充分发挥基因进步在视网膜健康方面的潜力。
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Advances in retina genetics: Progress, potential, and challenges.

The field of retinal genetics has seen remarkable advancements lately, reshaping our understanding of various retinal conditions, including age-related macular degeneration, diabetic retinopathy, and inherited retinal dystrophies. The purpose of this review is to provide an overview of the current status of genetics in the retina, covering the progress made, the expected future developments, and the challenges yet to be overcome. We highlight key advancements such as the advent of next-generation sequencing, which has exponentially enhanced the discovery of genetic mutations, thus also enabling personalized medicine/therapeutic approaches. Stem cells, gene augmentation, and gene-editing techniques such as CRISPR/Cas9 are discussed, in which we highlight ongoing research as well as their potential in the targeted treatment of retinal diseases. Despite these promising advancements, the field faces significant challenges, such as the complex interpretation of genetic data, ethical considerations, and the translational gap from bench to bedside. This review serves as a comprehensive guide not only to ophthalmologists but also to other healthcare professionals, scientists, and policymakers, providing insights into the rapidly evolving landscape of retinal genetics. It aims to stimulate further research and collaboration to surmount existing challenges and harness the full potential of genetic advancements for retinal health.

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来源期刊
CiteScore
3.80
自引率
19.40%
发文量
1963
审稿时长
38 weeks
期刊介绍: Indian Journal of Ophthalmology covers clinical, experimental, basic science research and translational research studies related to medical, ethical and social issues in field of ophthalmology and vision science. Articles with clinical interest and implications will be given preference.
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