Ophthalmological abnormalities in Down syndrome among Brazilian patients
Ophthalmological abnormalities in Down syndrome among Brazilian patients
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DOI：
10.1002/ajmg.a.61845
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发表时间：
2020-09-18
影响因子：
2
通讯作者：
Serpe, Crislaine Caroline
中科院分区：
文献类型：
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作者：
Bermudez, Beatriz Elizabeth Bagatin Veleda;de Souza do Amaral, Maria Eduarda;Serpe, Crislaine Caroline
唐氏综合症是最常见的染色体疾病，每700名活产儿中就有1人受到影响。在临床发现中，一个持续令人担忧的问题是视力障碍的高流行率，如果不加以治疗，可能会对儿童的发展产生负面影响。这项研究的目的是确定2005至2016年间在巴西南部一家唐氏综合症门诊就诊的患者中眼科疾病的患病率。对1207例患者进行了横断面调查，其中492例(40.8%)有眼科疾病。使用STATISTICA软件对这些数据进行描述性分析。在492例眼科疾病患者中，需戴眼镜者434例(36%)，圆锥角膜254例(42.1%)，先天性白内障27例(15.1%)，鼻泪管阻塞25例(2.0%)，斜视22例(1.9%)，眼球震颤4例(0.3%)，青少年白内障2例(0.2%)。两名患有圆锥角膜的年轻人接受了角膜移植。尽管眼科疾病在目前样本中的患病率(40.8%)低于当前文献中的描述，但它仍然加强了对婴儿进行常规和早期评估的重要性。这些应从6个月大开始，半年重复到2岁，每年重复到7岁，青少年每两年一次，成人和老年人每三年一次。我们对圆锥角膜高频率的发现支持对此类患者进行详细的角膜研究，以便及早发现和治疗。
Down syndrome is the most common chromosomal disorder, affecting 1/700 live births. Among the clinical findings, one constant concern is the high prevalence of visual disorders that, if left untreated, can negatively affect child development. The aim of this study was to determine the prevalence of ophthalmological findings among patients who attended an outpatient clinic for patients with Down syndrome in southern Brazil between 2005 and 2016. A cross-sectional study including 1,207 patients medical records were done, which 492 (40.8%) had some ophthalmological disorder. These data were subjected to descriptive analysis using Statistica software. Among the 492 patients with any ophthalmological disease, the need for glasses was found in 434 (36%) patients, keratoconus in 254 (42.1%), congenital cataract in 27 (15.1%), nasolacrimal duct obstruction in 25 (2.0%), strabismus in 22 (1.9%), nystagmus in four (0.3%), and juvenile cataract in two (0.2%). Two young adults with keratoconus underwent corneal transplantation. Although the prevalence of an ophthalmological disease among the present sample (40.8%) was lower than described in the current literature, it still reinforced the importance of routine and early evaluations in infants. These should begin at 6 months of age and be repeated half-year until 2 years old, annually until 7 years old, biennial in adolescents, and triennial in adults and elderly. Our findings of a high frequency of keratoconus support a detailed corneal study in such patients for early detection and treatment.