J Clin Neurol.  2007 Sep;3(3):139-146. 10.3988/jcn.2007.3.3.139.

Clinical and Oculographic Findings of X-linked Congenital Nystagmus in Three Korean Families

Affiliations
  • 1Department of Neurology, Seoul National University College of Medicine, Korea. jisookim@snu.ac.kr
  • 2Department of Neurology, Chonbuk National University College of Medicine, Korea.
  • 3Department of Neurology, Korea University College of Medicine, Korea.
  • 4Department of Ophthalmology, Seoul National University College of Medicine, Korea.

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.

Keyword

Congenital nystagmus; Video-oculography
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