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Genes and genetics in eye diseases: a genomic medicine approach for investigating hereditary and inflammatory ocular disorders

机译:眼部疾病的基因和遗传:研究遗传性和炎性眼疾的基因组医学方法

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摘要

Past 25y have witnessed an exponential increase in knowledge and understanding of ocular diseases and their respective genetic underpinnings. As a result, scientists have mapped many genes and their variants that can influence vision and health of our eyes. Based on these findings, it is becoming clear that an early diagnosis employing genetic testing can help evaluate patients' conditions for instituting treatment plan(s) and follow-up care to avoid vision complications later. For example, knowing family history becomes crucial for inherited eye diseases as it can benefit members in family who may have similar eye diseases or predispositions. Therefore, gathering information from an elaborate examination along with complete assessment of past medical illness by ophthalmologists followed by consultation with geneticists can help create a roadmap for making diagnosis and treatment precise and beneficial. In this review, we present an update on ocular genomic medicine that we believe has tremendous potential towards unraveling genetic implications in ocular diseases and patients' susceptibilities. We also discuss translational aspects of genetic ophthalmology and genome engineering that may help advance molecular diagnostics and therapeutics.
机译:在过去的25年中,人们对眼疾病及其各自的遗传基础的知识和理解呈指数增长。结果,科学家绘制了许多可影响视力和眼睛健康的基因及其变异体。根据这些发现,很明显的是,采用基因检测的早期诊断可以帮助评估患者的病情,以制定治疗计划和后续护理,以避免以后出现视力并发症。例如,了解家族史对于遗传性眼病至关重要,因为它可以使可能患有类似眼病或易感性疾病的家庭成员受益。因此,从精心的检查中收集信息,并由眼科医生对过去的医疗疾病进行全面评估,然后与遗传学家进行磋商,可以帮助制定路线图,使诊断和治疗更加精确和有益。在这篇综述中,我们介绍了眼基因组医学的最新进展,我们认为它在揭示眼病和患者易感性的遗传意义方面具有巨大潜力。我们还将讨论遗传眼科和基因组工程的翻译方面,这可能有助于推进分子诊断和治疗。

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