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Clilnical and oculographic findings of X-linked congenital nystagmus in three Korean families

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Authors
Jung, Ki-Young; Oh, Sun-Young; Shin, Byong-Soo; Hwang, Jeong-Min; Kim, Ji Soo
Issue Date
2007-09
Publisher
Korean Neurological Association
Citation
Journal of clinical neurology, Vol.3 No.3, pp. 139-146
Keywords
의약학Video-oculographyCongenital nystagmus
Abstract
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.
ISSN
1738-6586
Language
English
URI
https://hdl.handle.net/10371/91759
DOI
https://doi.org/10.3988/jcn.2007.3.3.139
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College of Medicine/School of Medicine (의과대학/대학원)Dept. of Neurology (신경과학교실)Journal Papers (저널논문_신경과학교실)
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