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唐氏综合征与眼睛:眼部特征及眼部评估

Down syndrome and the eye: Ocular characteristics and ocular assessment.

作者信息

Mathan Joyce John, Simkin Samantha Kaye, Gokul Akilesh, McGhee Charles Ninian John

机构信息

Department of Ophthalmology, New Zealand National Eye Centre, Faculty of Medical and Health Sciences, The University of Auckland, Auckland, New Zealand.

Department of Ophthalmology, New Zealand National Eye Centre, Faculty of Medical and Health Sciences, The University of Auckland, Auckland, New Zealand.

出版信息

Surv Ophthalmol. 2022 Nov-Dec;67(6):1631-1646. doi: 10.1016/j.survophthal.2022.03.006. Epub 2022 Apr 1.

Abstract

The trisomy of chromosome 21, the smallest autosome, is associated with significant systemic manifestations in addition to intellectual disability. The triplication of this chromosome, known as Down syndrome (DS) is also associated with several manifestations in the eye, and ocular adnexae. People with DS have a variety of ophthalmic conditions, some of which require intervention. The variable systemic and ophthalmic presentations in DS can make the delivery of eye care challenging. We highlight common ophthalmic presentations in people with DS, as well as the practical implications of delivering eye examinations for this complex needs population. We aim to aid clinicians involved in the ophthalmic care of people with DS in both clinical and research settings.

摘要

21号染色体(最小的常染色体)三体与智力残疾之外的显著全身表现相关。这条染色体的三倍体,即唐氏综合征(DS),也与眼部及眼附属器的多种表现有关。唐氏综合征患者有多种眼科疾病,其中一些需要干预。唐氏综合征中全身和眼科表现的多样性会使眼科护理具有挑战性。我们重点介绍唐氏综合征患者常见的眼科表现,以及为这一有复杂需求人群进行眼部检查的实际意义。我们旨在帮助参与唐氏综合征患者眼科护理的临床医生开展临床和研究工作。

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