Jan J E, Carruthers J D, Tillson G
Department of Paediatrics, University of British Columbia, Vancouver, Canada.
Can J Neurol Sci. 1992 Feb;19(1):76-9.
Congenital motor nystagmus (CMN) can be familial or non-familial. The expressivity of CMN is so variable that in one affected member of the family the oscillations are obvious, while in the others the nystagmus could be overlooked even by the patients themselves. In spontaneous cases the proof of heredity might be discovered by an ophthalmological examination or eye movement recordings of other family members. Our multidisciplinary studies of 27 children with CMN suggests that a neurodevelopmental assessment can also be valuable in establishing a diagnosis of heredity. Our studies suggest that the hereditary form of CMN is free from neurodevelopmental problems, while the non-familial form is not. Therefore, children with spontaneous CMN could be referred for neurodevelopmental evaluation in order to establish a more accurate diagnosis.
先天性眼球震颤（CMN）可以是家族性的，也可以是非家族性的。CMN的表现形式变化很大，以至于在一个受影响的家庭成员中，眼球震颤很明显，而在其他家庭成员中，即使是患者自己也可能忽略眼球震颤。在散发病例中，通过对其他家庭成员进行眼科检查或眼动记录可能会发现遗传证据。我们对27例CMN患儿的多学科研究表明，神经发育评估在确定遗传诊断方面也可能有价值。我们的研究表明，CMN的遗传形式不存在神经发育问题，而非家族性形式则存在。因此，散发型CMN患儿可转诊进行神经发育评估，以建立更准确的诊断。
