唐氏综合征患儿的眼科和神经眼科表现。

IF 2.8 3区 医学 Q2 GENETICS & HEREDITY American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2023-12-01 Epub Date: 2023-10-04 DOI:10.1002/ajmg.c.32068
Aarushi Jain, Natalie K Boyd, Kelli C Paulsen, Benjamin N Vogel, Lina Nguyen, Jonathan D Santoro
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引用次数: 0

摘要

唐氏综合症,也称为21三体,是一种与轻度至中度智力残疾、生长迟缓和特征性面部特征相关的遗传性疾病。唐氏综合征儿童有多种眼部并发症,包括斜视、眼球震颤、屈光不正、先天性白内障、圆锥角膜和视力下降。早期眼科检查对于患者的早期诊断和治疗是必要的。这篇叙述性综述探讨了唐氏综合征儿童的眼部表现以及及时进行眼科干预治疗的重要性。
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Ophthalmologic and neuro-ophthalmologic findings in children with Down syndrome.

Down syndrome, also known as Trisomy 21, is a genetic disorder associated with mild-to-moderate intellectual disability, delays in growth, and characteristic facial features. A wide range of ocular complications are seen in children with Down syndrome, including strabismus, nystagmus, refractive errors, congenital cataracts, the presence of keratoconus, and decreased visual acuity. Early ophthalmic examination is needed for early diagnosis and treatment in patients. This narrative review examines ocular manifestations in children with Down syndrome and the importance of prompt ophthalmic interventions for treatment.

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来源期刊
CiteScore
7.00
自引率
0.00%
发文量
42
审稿时长
>12 weeks
期刊介绍: Seminars in Medical Genetics, Part C of the American Journal of Medical Genetics (AJMG) , serves as both an educational resource and review forum, providing critical, in-depth retrospectives for students, practitioners, and associated professionals working in fields of human and medical genetics. Each issue is guest edited by a researcher in a featured area of genetics, offering a collection of thematic reviews from specialists around the world. Seminars in Medical Genetics publishes four times per year.
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