Tamayo Marta L, García Natalia, Bermúdez Rey María Carolina, Morales Lisbeth, Flórez Silvia, Varón Clara, Gelvez Nancy
Instituto de Genética Humana, Pontificia Universidad Javeriana, Bogotá, Colombia.
Int J Pediatr Otorhinolaryngol. 2013 Sep;77(9):1536-40. doi: 10.1016/j.ijporl.2013.06.028. Epub 2013 Aug 1.
The purpose of this study was to establish a new approach to improve detection of deafness due to rubella.
Colombian institutes for the deaf were visited by a medical team to perform in all enrolled individuals an ophthalmological examination with emphasis in fundus eye by a retina specialist. In cases where ocular alterations compatible with CRS were found, a medical interview by a clinical geneticist analyzing pre-and postnatal history and a thorough medical examination was done.
A total of 1383 deaf institutionalized individuals were evaluated in 9 Colombian cities in the period of 2005 to 2006, finding a total of 463 positive cases for salt-and-pepper retinopathy (33.5%), in which rubella could be the etiology of deafness. Medellin, Cartagena, Bucaramanga and Barranquilla were the cities with the highest percentage of Congenital rubella, corresponding to 22.8% of analyzed population. The analysis performed on cases in which reliable prenatal history was obtained in a second appointment (n=88) showed association between positive viral symptoms during pregnancy and salt-and-pepper retinopathy in 62.5% of cases, while both (retinopathy and viral symptoms) were absent in 29.5% of cases; showing a correlation in 92% of cases.
The frequency of deafness by rubella obtained by this study is significantly high compared with previous Colombian studies and with international reports. It was possible to correlate the antecedent of symptoms during pregnancy with the presence of salt-and-pepper retinopathy in this deaf population when reliable prenatal history was available, therefore eye testing with emphasis in fundus examination is a good indicator of rubella induced deafness. We propose a new approach in the search of deafness causes, based on a thorough ophthalmologic examination in all deaf people.
本研究旨在建立一种新方法，以提高对风疹所致耳聋的检测。
一个医疗团队走访了哥伦比亚的聋人机构，对所有登记在册的个体进行眼科检查，重点是由视网膜专家进行眼底检查。对于发现有与先天性风疹综合征（CRS）相符的眼部病变的病例，由临床遗传学家进行医学访谈，分析产前和产后病史，并进行全面的医学检查。
2005年至2006年期间，在哥伦比亚的9个城市对总共1383名入住机构的聋人进行了评估，共发现463例椒盐样视网膜病变阳性病例（33.5%），其中风疹可能是耳聋的病因。麦德林、卡塔赫纳、布卡拉曼加和巴兰基亚是先天性风疹比例最高的城市，占分析人群的22.8%。对在第二次就诊时获得可靠产前病史的病例（n = 88）进行的分析显示，62.5%的病例中孕期病毒症状阳性与椒盐样视网膜病变之间存在关联，而29.5%的病例中两者（视网膜病变和病毒症状）均不存在；92%的病例显示存在相关性。
与之前的哥伦比亚研究和国际报告相比，本研究得出的风疹所致耳聋的发生率显著较高。当有可靠的产前病史时，在这一聋人群体中有可能将孕期症状史与椒盐样视网膜病变的存在相关联，因此重点进行眼底检查的眼部检测是风疹所致耳聋的一个良好指标。我们基于对所有聋人进行全面眼科检查，提出了一种寻找耳聋病因的新方法。
