Iodice Alessandro, Galli Jessica, Molinaro Anna, Franzoni Alessandra, Micheli Roberto, Pinelli Lorenzo, Plebani Alessandro, Soresina Annarosa, Fazzi Elisa
Unit of Child Neurology and Psychiatry, ASST Spedali Civili, Brescia, Italy.
Unit of Child Neurology and Psychiatry, Department of Clinical and Experimental Sciences, ASST Spedali Civili and University of Brescia, Brescia, Italy.
Neuropediatrics. 2018 Feb;49(1):26-34. doi: 10.1055/s-0037-1607216. Epub 2017 Oct 9.
Visual impairment is present in almost all patients with ataxia telangiectasia (AT) and, due to their early onset, constitute an important disabling aspect of the syndrome: the quality of vision is limited by dyspraxia and oculomotor abnormal movements. The purpose of this observational study was to describe visual disorders, notably oculomotor impairment, in a sample of children with AT.
Fifteen AT patients (mean age 12 years and 4 months) underwent a neurovisual evaluation, particularly focused on oculomotor functions (fixation, smooth pursuit, saccades, and abnormal ocular movements). We compared the visual profile obtained with that described using the International Cooperative Ataxia Rating Scale (ICARS) subscale of oculomotor dysfunction.
Refractive errors were seen in eight patients and strabismus in three. Major oculomotor findings were fixation abnormalities (6/15), saccadic impairment (15/15), and abnormal smooth pursuit (14/15). Abnormal ocular movements were seen in 13/15 (saccadic intrusion in 8 and nystagmus in 5). Using ICARS scale, 13/15 children presented gaze-evoked nystagmus, 4/15 a clearly saccadic pursuit, and 11/15 dysmetria of saccades.
We propose a clinical neurovisual evaluation, which could be integrated with ICARS scores in the study of oculomotor involvement in AT pediatric patients. We strongly recommend the empowerment of visual functions to slow down progressive global disability of these patients.
几乎所有共济失调毛细血管扩张症（AT）患者都存在视力障碍，且由于其发病早，这构成了该综合征的一个重要致残方面：视力质量受到运动障碍和眼球运动异常的限制。本观察性研究的目的是描述AT患儿样本中的视觉障碍，尤其是眼球运动障碍。
15名AT患者（平均年龄12岁4个月）接受了神经视觉评估，特别关注眼球运动功能（注视、平稳跟踪、扫视和异常眼球运动）。我们将获得的视觉特征与使用国际合作共济失调评定量表（ICARS）中眼球运动功能障碍子量表所描述的特征进行了比较。
8名患者有屈光不正，3名有斜视。主要的眼球运动检查结果为注视异常（6/15）、扫视障碍（15/15）和平稳跟踪异常（14/15）。13/15的患者有异常眼球运动（8名有扫视侵入，5名有眼球震颤）。使用ICARS量表，13/15的儿童出现凝视诱发的眼球震颤，4/15有明显的扫视跟踪，11/15有扫视辨距不良。
我们提出一种临床神经视觉评估方法，可将其与ICARS评分相结合，用于研究AT患儿的眼球运动受累情况。我们强烈建议加强视觉功能，以减缓这些患者进行性的整体残疾。
