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遗传学在眼科学中的不断演变的角色。

The evolving role of genetics in ophthalmology.

机构信息

Departments of Ophthalmology & Human and Molecular Genetics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA.

Department of Pediatrics, Children's Hospital of Richmond at VCU, Richmond, VA, USA.

出版信息

Ophthalmic Genet. 2021 Apr;42(2):110-113. doi: 10.1080/13816810.2020.1868011. Epub 2021 Jan 12.

Abstract

Advances in molecular genetics over the past three decades have helped identify a substantial number of genetic variants causing inherited eye diseases that can be identified rapidly by appropriate genetic tests in a clinically useful window. With this progression of knowledge, the roles of genetics and ophthalmology in patient care have become increasingly intertwined, and the necessity for subspecialists in the field of ophthalmic genetics is of paramount importance. As a result of continual medical specialization, technological progress in genetics and knowledge garnered by over a century and a half of cataloguing eye pathology, ophthalmic genetics has become an emerging subspecialty within ophthalmology. By virtue of its rapidly changing advances, genetics and genomics serves a large role within ophthalmology, and subspecialists with the same level of detailed and broad knowledge as any other ophthalmology subspecialty are now required in order to meet the growing needs of the expanding population.

摘要

过去三十年中,分子遗传学的进步帮助确定了大量导致遗传性眼病的遗传变异,这些变异可以通过适当的遗传测试在临床有用的窗口中快速识别。随着这一知识的发展,遗传学和眼科学在患者治疗中的作用越来越紧密地交织在一起,因此眼科遗传学家的必要性变得至关重要。由于不断的医学专业化、遗传学技术的进步以及一个半多世纪以来对眼部病理学的编目知识的积累,眼科遗传学已成为眼科学中的一个新兴亚专科。由于其快速变化的进步,遗传学和基因组学在眼科学中发挥着重要作用,因此需要具有与任何其他眼科学亚专科一样详细和广泛知识的专家,以满足不断增长的人群的需求。

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本文引用的文献

1
Is it Usher syndrome? Collaborative diagnosis and molecular genetics of patients with visual impairment and hearing loss.
Ophthalmic Genet. 2020 Apr;41(2):151-158. doi: 10.1080/13816810.2020.1747088. Epub 2020 Apr 13.
3
Recent developments in genetic/genomic medicine.
Clin Sci (Lond). 2019 Mar 5;133(5):697-708. doi: 10.1042/CS20180436. Print 2019 Mar 15.
4
American Journal of Ophthalmology Contributions to Ophthalmic Genetics.
Am J Ophthalmol. 2018 Jun;190:xvi-xxi. doi: 10.1016/j.ajo.2018.03.004. Epub 2018 Mar 9.
5
Epidemiology of blindness in children.
Arch Dis Child. 2017 Sep;102(9):853-857. doi: 10.1136/archdischild-2016-310532. Epub 2017 May 2.
6
Ocular manifestations in the X-linked intellectual disability syndromes.
Ophthalmic Genet. 2017 Sep-Oct;38(5):401-412. doi: 10.1080/13816810.2016.1247459. Epub 2017 Jan 23.
7
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.
J Inherit Metab Dis. 2017 Jan;40(1):49-74. doi: 10.1007/s10545-016-9979-0. Epub 2016 Oct 24.
8
Human Genome Project: Twenty-five years of big biology.
Nature. 2015 Oct 1;526(7571):29-31. doi: 10.1038/526029a.
10

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