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Ophthalmological abnormalities in Down syndrome among Brazilian patients.
American Journal of Medical Genetics Part A ( IF 1.7 ) Pub Date : 2020-09-18 , DOI: 10.1002/ajmg.a.61845
Beatriz Elizabeth Bagatin Veleda Bermudez 1, 2 , Maria Eduarda de Souza do Amaral 1 , Charles da Silva Gomes 1 , Iolanda Maria Novadzki 1 , Camila Maciel de Oliveira 2, 3 , Crislaine Caroline Serpe 2
Affiliation  

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.

中文翻译:

巴西患者唐氏综合症的眼科异常。

唐氏综合症是最常见的染色体疾病,影响1/700例活产。在临床发现中,一个经常引起关注的问题是视力障碍的高患病率,如果不加以治疗,会严重影响儿童的发育。这项研究的目的是确定2005年至2016年之间在巴西南部唐氏综合症门诊就诊的患者中眼科检查的患病率。进行了一项横断面研究,包括1,207例患者的医疗记录,其中492(40.8 %)患有眼科疾病。使用Statistica软件对这些数据进行描述性分析。在492名患有任何眼科疾病的患者中,有434例(36%)患儿需要戴眼镜,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。尽管本样本中眼科疾病的患病率(40.8%)低于当前文献中的描述,但仍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,每半年重复一次,直到2岁,每年重复一次,直到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。两名患有圆锥角膜的年轻人接受了角膜移植。尽管本样本中眼科疾病的患病率(40.8%)低于当前文献中的描述,但仍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,每半年重复一次,直到2岁,每年重复一次,直到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。两名患有圆锥角膜的年轻人接受了角膜移植。尽管本样本中眼科疾病的患病率(40.8%)低于当前文献中的描述,但仍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,每半年重复一次,直到2岁,每年重复一次,直到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。这些应从6个月大开始,每半年重复一次,直到2岁,每年重复一次,直到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。这些应从6个月大开始,每半年重复一次,直到2岁,每年重复一次,直到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。
更新日期:2020-10-17
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