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KMID : 1130620070030030139
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Journal of Clinical Neurology
2007 Volume.3 No. 3 p.139 ~ p.146
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Clinical and Oculographic Findings of X-linked Congenital Nystagmus in Three Korean Families
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Oh Sun-Young
Kim Ji-Soo
Hwang Jeong-Min
Jung Ki-Young
Shin Byong-Soo
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Abstract
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Background and purpose: Congenital nystagmus (CN) is an ocular oscillation that usually manifests during early infancy. Typical features of CN include bilateral, conjugate, uniplanar, and usually horizontal eye movements, a null position, increased oscillation during fixation, and decreased amplitude during convergence. Our purposes were description and analysis of clinical and oculomotor findings of patients with X-linked familial CN.
Methods: We describe the clinical and oculographic features of five patients from three families with X-linked CN. Three-dimensional video-oculography disclosed various patterns of CN and variable degrees of gaze-holding deficits and visual impairments.
Results: The features of CN varied even in patients from the same family. Head tilt, strabismus, reversal of optokinetic nystagmus, and impairments of the vestibulo-ocular reflex, smooth pursuits, and saccades were frequent findings.
Conclusions: The intra- and interfamilial diversities imply that heredity plays a secondary role in determining the clinical phenotypes and waveforms of CN
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KEYWORD
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Congenital nystagmus, Video-oculography
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