Clinical and Oculographic Findings of X-linked Congenital Nystagmus in Three Korean Families
Journal of Clinical Neurology
;
: 139-146, 2007.
Article
in English
| WPRIM
| ID: wpr-141345
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Phenotype
/
Pursuit, Smooth
/
Saccades
/
Vision Disorders
/
Reflex, Vestibulo-Ocular
/
Strabismus
/
Nystagmus, Optokinetic
/
Nystagmus, Congenital
/
Heredity
/
Eye Movements
Type of study:
Diagnostic study
Limits:
Humans
Language:
English
Journal:
Journal of Clinical Neurology
Year:
2007
Type:
Article
Similar
MEDLINE
...
LILACS
LIS