Shaw F S, Kriss A, Russel-Eggitt I, Taylor D, Harris C
Department of Ophthalmology, Great Ormond Street Hospital for Children, London, UK.
Dev Med Child Neurol. 2001 Sep;43(9):622-7. doi: 10.1017/s001216220100113x.
Horizontal asymmetric nystagmus usually occurs in one of three situations: secondary to an intracranial lesion, with monocular visual loss, or as part of the triad that constitutes the diagnosis of spasmus nutans (asymmetric nystagmus, abnormal head posture, head shake). Clinical records of 277 children, presenting with congenital nystagmus over an 8-year period were reviewed. Nystagmus was asymmetric in 24 of 277 cases. Seven of these patients were diagnosed with spasmus nutans. This is a rare condition that is only diagnosed retrospectively based on the absence of any abnormal neuroimaging or electrophysiological findings. Twelve of 24 patients had intracranial pathology and all had abnormal visual evoked potentials (VEPs). Five patients were diagnosed with congenital sensory defect nystagmus including one with albinism, three with congenital cone dysfunction, and one with cone-rod dystrophy. This paper stresses that although neuroimaging is necessary in all patients presenting with asymmetric nystagmus, such nystagmus can also occur with retinal disease or albinism and indicates the importance of non-invasive VEP/ERG testing in all forms of nystagmus.
继发于颅内病变、单眼视力丧失，或作为构成痉挛性斜颈诊断的三联征的一部分（不对称性眼球震颤、异常头位、摇头）。回顾了277例在8年期间出现先天性眼球震颤的儿童的临床记录。277例中有24例眼球震颤不对称。其中7例患者被诊断为痉挛性斜颈。这是一种罕见的疾病，仅在没有任何异常神经影像学或电生理检查结果的情况下通过回顾性诊断。24例患者中有12例有颅内病变，且所有患者视觉诱发电位（VEP）均异常。5例患者被诊断为先天性感觉缺陷性眼球震颤，其中1例患有白化病，3例患有先天性视锥细胞功能障碍，1例患有视锥-视杆营养不良。本文强调，尽管对于所有出现不对称性眼球震颤的患者都需要进行神经影像学检查，但这种眼球震颤也可发生于视网膜疾病或白化病，并指出了在所有形式的眼球震颤中进行无创VEP/ERG检查的重要性。
