Síndrome de Down: epidemiologia e alterações oftalmológicas

Abstract

Purpose:The research project goal is to determine the incidence of ophthalmologic changes in children with Down syndrome who were attended in Peri-Peri Health Center, from july 07, 2004 to october 14, 2009. Methods: This is an observational retrospective study of 35 children medical records with Down's Syndrome who were attended in Peri-Peri Health Center. The patients were submitted to ophthalmologic exams including: ocular inspection; retinoscopy; biomicroscopy; indirect ophthalmoscopy; fluorescein disappearance test; observation test of fluorescein in the oropharynx. Results: The children of this study were examined since 2 months of age. The ophthalmologic changes found in the 35 children with Down Syndrome was: oblique eyelid in 100%, epicanto in 70%, supernumerary vessels in the arcades in the retina exam in 100%, Brushfield spot in 48.57%, blefarity in 42.85%, congenital lacrimal obstruction in 25.71%, miopy in 14.28%, astigmatismy in 22.28%, esotropia in 11.42%, exotropia in 5.71%, nystagmus in 2.85%, ectropion in 5.71% and congenital cataract in 2.85%. Conclusion: This study found a lot of ophthalmologic diseases in children with Down's syndrome: blefarity, congenital nasolacrimal duct obstruction, etc. Therefore the follow-up of these children is very relevant.

Epidemiologia das Síndromes Cromossômicas no Estado do Piauí: Relato dos primeiros 100 exames de cariótipos realizados no Estado

“…Tabela 1 -Distribuição por sexo e faixa etárias dos pacientes que realizaram cariótipo entre os meses de agosto a dezembro de 2021. bem definidas e trissomia livre na maioria dos casos, a realização do cariótipo é sempre imprescindível, uma vez que a presença de mosaicismo pode ocorrer, com fenótipos mais brandos além da existência de cariótipos com alterações estruturais (Lorena, 2012;Taylor-Phillips et al, 2016). No presente estudo, inclusive, em um dos cariótipos foi detectado a alteração estrutural 46,XX,t(14,21) (Tabela 3) e solicitado o cariótipo dos pais com posterior aconselhamento genético, pois, nesses casos, o risco de um novo filho com a mesma síndrome é alta.…”

Evaluation of functional capabilities in children with Down Syndrome

“…It is a result of chromosomal nondisjunction, occurring, mostly, during the meiotic process I (one), thus leading to Down syndrome. This is one of the disorders of genetic etiology recognized for more than a century by John Langdon-Down (8,21,22,23).…”