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家族性自发性眼球震颤

Familial voluntary nystagmus.

作者信息

Neppert Birte, Rambold Holger

机构信息

Department of Ophthalmology, University Hospital, Lübeck, Germany.

出版信息

Strabismus. 2006 Jun;14(2):115-9. doi: 10.1080/09273970600701226.

DOI:10.1080/09273970600701226
PMID:16760118
Abstract

PURPOSE

To examine the pathological significance and familial occurrence of voluntary nystagmus.

PATIENTS AND METHODS

We examined two families orthoptically as well as with video and search-coil techniques or electronystagmography (ENG). Three members of three generations of the first family and a 9-year-old boy from a second family not related to the first were able to generate a voluntary horizontal nystagmus.

RESULTS

The characteristics of the nystagmus of our original patient, his daughter and 8-year-old grandson (1st family) were remarkably similar: duration of 2-5 seconds, amplitudes of 1-4 degrees and frequencies around 15 cycles/second. In the second family, our patient with a congenital esotropia and hyperopia was the only one of his family who could voluntarily produce a nystagmus of about 5 degrees and 10 cycles/second for maximum of 20 seconds. During prolonged reading, the same nystagmus with disturbing oscillopsia developed involuntarily and was not suppressible. We added +0.75 diopters to both lenses of his spectacles to account for the result of our cycloplegic refraction. This stopped the involuntary nystagmus during near fixation.

DISCUSSION

To avoid unintentional "bouts" of voluntary nystagmus, a reduction of the convergence impulse by plus-lenses may be effective. The parameters of voluntary nystagmus can be considered family-specific.

摘要

目的

研究随意性眼球震颤的病理意义及家族性发病情况。

患者与方法

我们采用验光以及视频、搜索线圈技术或眼震电图(ENG)对两个家族进行了检查。第一个家族三代中的三名成员以及第二个家族中一名与第一个家族无亲缘关系的9岁男孩能够产生随意性水平眼球震颤。

结果

我们最初的患者、他的女儿和8岁孙子(第一个家族)的眼球震颤特征非常相似:持续时间为2 - 5秒,幅度为1 - 4度,频率约为15次/秒。在第二个家族中,我们患有先天性内斜视和远视的患者是其家族中唯一能够随意产生约5度、10次/秒且最长持续20秒眼球震颤的人。在长时间阅读过程中,会不由自主地出现同样伴有令人不安的视振荡的眼球震颤,且无法抑制。我们在他的眼镜镜片上各加了+0.75屈光度,以考虑我们的睫状肌麻痹验光结果。这在近距注视时阻止了不自主眼球震颤。

讨论

为避免随意性眼球震颤的无意“发作”,用正透镜减少集合冲动可能有效。随意性眼球震颤的参数可被视为家族特异性的。

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