Clinical and Oculographic Findings of X-linked Congenital Nystagmus in Three Korean Families.
OBJECTIVE
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.
Oh
Sun-Young
SY
Department of Neurology, Seoul National University College of Medicine.
Shin
Byong-Soo
BS
Jeong
Ki-Young
KY
Hwang
Jeong-Min
JM
Kim
Ji Soo
JS