Postolache Lavinia, Monier Anne, Lhoir Sophie
Department of Pediatric Ophthalmology, Queen Fabiola University Children's Hospital, Université Libre de Bruxelles, Brussels, Belgium.
Department of Pediatric Neurology, Queen Fabiola University Children's Hospital, Université Libre de Bruxelles, Brussels, Belgium.
Eye Brain. 2021 Jul 21;13:193-203. doi: 10.2147/EB.S319817. eCollection 2021.
Down syndrome, caused by an extra copy of all or part of chromosome 21, is the most prevalent intellectual disability of genetic origin. Among numerous comorbidities which are part of the phenotype of individuals with Down syndrome, ocular problems appear to be highly prevalent. Neuro-ophthalmological manifestations, such as ocular alignment and motility disturbances, amblyopia, hypoaccommodation or optic nerve abnormalities, and other organic ocular anomalies frequently reported in Down syndrome, may lead to an overall decrease in visual acuity. Although numerous studies have reported ocular anomalies related to Down syndrome, it remains challenging to determine the impact of each anomaly upon the decreased visual acuity, as most such individuals have more than one ocular problem. Even in children with Down syndrome and no apparent ocular defect, visual acuity has been found to be reduced compared with typically developing children. Pediatric ophthalmological examination is a critical component of a multidisciplinary approach to prevent and treat ocular complications and improve the visual outcome in children with Down syndrome. This narrative review aims to provide a better understanding of the neuro-ophthalmological manifestations and discuss the current ophthalmological management in children with Down syndrome.
唐氏综合征由21号染色体全部或部分的额外拷贝引起,是最常见的遗传性智力残疾。在唐氏综合征患者表型所包含的众多合并症中,眼部问题似乎非常普遍。神经眼科表现,如眼位和眼球运动障碍、弱视、调节不足或视神经异常,以及唐氏综合征中经常报告的其他器质性眼部异常,可能会导致视力整体下降。尽管众多研究报告了与唐氏综合征相关的眼部异常,但由于大多数此类个体存在不止一个眼部问题,确定每种异常对视力下降的影响仍然具有挑战性。即使在没有明显眼部缺陷的唐氏综合征儿童中,也发现其视力与正常发育儿童相比有所降低。小儿眼科检查是预防和治疗眼部并发症以及改善唐氏综合征儿童视力结果的多学科方法的关键组成部分。本叙述性综述旨在更好地理解神经眼科表现,并讨论唐氏综合征儿童当前的眼科治疗方法。