Roussi Mirella, Dalens Hélène, Marcellier Jean Jacques, Bacin Franck
Department of Ophthalmology, Clermont-Ferrand University, Clermont-Ferrand, France.
Clin Ophthalmol. 2011;5:429-34. doi: 10.2147/OPTH.S14291. Epub 2011 Apr 6.
Congenital nystagmus is a pathologic oculomotor state appearing at about three to four months of age. The precise diagnosis requires detailed clinical examination and electrophysiological findings. This case report presents two male patients with congenital nystagmus examined longitudinally from the age of six months until 17-18 years of age. Clinical and electrophysiological protocols were detailed. The first results showed electronegative electroretinography in the two cases and examination combined with electroretinographic findings helped us to make the diagnosis of Congenital Night Stationary Blindness (CSNB). This diagnosis was confirmed by genetic studies. CSNB is interesting to study because through electrophysiological findings, it enables a better understanding of the physiology of neural transmission in the outer part of the retina.
先天性眼球震颤是一种在大约三到四个月大时出现的病理性眼球运动状态。精确的诊断需要详细的临床检查和电生理检查结果。本病例报告介绍了两名患有先天性眼球震颤的男性患者，从六个月大到17 - 18岁进行了纵向检查。详细说明了临床和电生理检查方案。最初的结果显示这两例患者视网膜电图呈阴性，结合视网膜电图检查结果的检查帮助我们做出了先天性静止性夜盲（CSNB）的诊断。基因研究证实了这一诊断。CSNB很值得研究，因为通过电生理检查结果，它能让我们更好地理解视网膜外层神经传递的生理过程。
