Pediatric Neurophysiology unit, AP-HP, Hôpital Armand-Trousseau, Paris, France.
Eur J Paediatr Neurol. 2009 Nov;13(6):505-7. doi: 10.1016/j.ejpn.2008.10.002. Epub 2008 Nov 9.
Usher syndrome type 1 needs to be diagnosed at early age in order to timely manage speech therapy, cochlear implantation, and genetic counseling. Few data are available regarding electroretinographic testing before the age of six years.
To describe electroretinographic changes in young children with Usher syndrome type 1.
Retrospective study of fourteen patients. Age at first neurophysiologic testing was between 17 months and 5 years 4 months. Electroretinogram was performed using flash stimulation in mesopic conditions in the conscious child. Analysis was focused on the amplitudes and latencies of a- and b-waves.
Whatever the age, an abnormal fundus was always confirmed with an absent electroretinogram. The youngest patient with absent electroretinogram was 17 month-old. When recorded on and after the 29th month of age, electroretinogram was absent in all cases, including 6 patients with normal fundus. In three patients a low-amplitude electroretinogram was present at first recording within the 26th and 27th months.
Electroretinogram showed retinopathy in young children with Usher syndrome type 1, even in the absence of fundoscopic signs of retinal degeneration.
为了及时进行言语治疗、人工耳蜗植入和遗传咨询，需要在早期诊断 1 型乌谢尔综合征。6 岁以下儿童的视网膜电图检查数据较少。
描述 1 型乌谢尔综合征幼儿的视网膜电图变化。
对 14 名患者进行回顾性研究。首次神经生理检查的年龄在 17 个月至 5 岁 4 个月之间。在清醒儿童的中光条件下使用闪光刺激进行视网膜电图检查。分析重点是 a 波和 b 波的振幅和潜伏期。
无论年龄大小，异常眼底总是伴随着视网膜电图消失。最早记录到无视网膜电图的患者为 17 个月大。当在 29 个月及以后进行记录时，所有患者（包括 6 名眼底正常的患者）的视网膜电图均消失。在 3 名患者中，首次记录时出现低振幅视网膜电图，记录时间在 26 个月至 27 个月之间。
视网膜电图显示 1 型乌谢尔综合征幼儿存在视网膜病变，即使眼底没有视网膜变性的迹象。
