AI助力遗传性视网膜病诊断与治疗,提升精准医疗水平
Artificial intelligence techniques in inherited retinal diseases: A review
- 利用机器学习与深度学习技术,特别是卷积神经网络进行疾病检测
- 可预测病情进展并支持个性化治疗方案制定
- 强调可解释AI在临床信任与透明度中的关键作用
遗传性视网膜病(IRDs)是一组导致进行性视力丧失的遗传性疾病,是工作年龄人群失明的主要原因。其复杂性和异质性给诊断、预后和管理带来巨大挑战。人工智能(AI)的最新进展为解决这些问题提供了潜在方案。然而,AI技术的快速发展及其多样化应用导致该领域知识碎片化。本文综述现有研究,识别研究空白,系统分析机器学习与深度学习在疾病检测、进展预测和个性化治疗规划中的应用潜力,尤其关注卷积神经网络的效果。同时探讨可解释AI在临床环境中的重要性,以提升AI系统的透明度与可信度。文章指出需加强针对AI在IRDs中作用的聚焦研究,提供当前技术的结构化分析,并展望未来方向。最后总结部署AI于IRDs所面临的挑战与机遇,强调跨学科协作及持续开发稳健、可解释模型的重要性。
原文摘要 · Abstract (English)
Inherited retinal diseases (IRDs) are a diverse group of genetic disorders that lead to progressive vision loss and are a major cause of blindness in working-age adults. The complexity and heterogeneity of IRDs pose significant challenges in diagnosis, prognosis, and management. Recent advancements in artificial intelligence (AI) offer promising solutions to these challenges. However, the rapid development of AI techniques and their varied applications have led to fragmented knowledge in this field. This review consolidates existing studies, identifies gaps, and provides an overview of AI's potential in diagnosing and managing IRDs. It aims to structure pathways for advancing clinical applications by exploring AI techniques like machine learning and deep learning, particularly in disease detection, progression prediction, and personalized treatment planning. Special focus is placed on the effectiveness of convolutional neural networks in these areas. Additionally, the integration of explainable AI is discussed, emphasizing its importance in clinical settings to improve transparency and trust in AI-based systems. The review addresses the need to bridge existing gaps in focused studies on AI's role in IRDs, offering a structured analysis of current AI techniques and outlining future research directions. It concludes with an overview of the challenges and opportunities in deploying AI for IRDs, highlighting the need for interdisciplinary collaboration and the continuous development of robust, interpretable AI models to advance clinical applications.
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