Progress in Translating Glaucoma Genetics Into the Clinic: A Review

IF 5.6 2区 医学 Q1 OPHTHALMOLOGY Clinical and Experimental Ophthalmology Pub Date : 2025-02-10 DOI:10.1111/ceo.14500
Antonia Kolovos, Giorgina Maxwell, Emmanuelle Souzeau, Jamie E. Craig
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Abstract

Precision medicine is paving the way for personalised risk assessment, and its translation into glaucoma clinics holds potential to change current management paradigms. Our understanding of glaucoma's genetic architecture has expanded in recent years, recognising both monogenic and polygenic contributions. Genetic testing within glaucoma populations can provide additional information for clinicians to support decision-making. Here, we review the evidence base for genetic variants strongly associated with glaucoma and outline a vision for translating these learnings into the clinic. Integrating clinical and genetic information will provide clinicians and patients with the strongest evidence to deliver personalised glaucoma management.

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青光眼遗传学应用于临床的研究进展综述。
精准医学正在为个性化风险评估铺平道路,并且将其转化为青光眼诊所有可能改变当前的管理范式。近年来,我们对青光眼的遗传结构的理解已经扩大,认识到单基因和多基因的贡献。青光眼人群的基因检测可以为临床医生提供额外的信息来支持决策。在这里,我们回顾了与青光眼密切相关的遗传变异的证据基础,并概述了将这些知识转化为临床的愿景。整合临床和遗传信息将为临床医生和患者提供最有力的证据,以提供个性化的青光眼治疗。
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来源期刊
CiteScore
7.60
自引率
12.50%
发文量
150
审稿时长
4-8 weeks
期刊介绍: Clinical & Experimental Ophthalmology is the official journal of The Royal Australian and New Zealand College of Ophthalmologists. The journal publishes peer-reviewed original research and reviews dealing with all aspects of clinical practice and research which are international in scope and application. CEO recognises the importance of collaborative research and welcomes papers that have a direct influence on ophthalmic practice but are not unique to ophthalmology.
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