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

• Oh SY
• Shin BS
• Jeong KY
• Hwang JM
• Kim JS

• KMID: 2135492
• DOI: http://doi.org/10.3988/jcn.2007.3.3.139

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

MeSH Terms

Eye Movements
Head
Heredity
Humans
Nystagmus, Congenital*
Nystagmus, Optokinetic
Phenotype
Pursuit, Smooth
Reflex, Vestibulo-Ocular
Saccades
Strabismus
Vision Disorders

Figure

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  Figure 1 Pedigree of family A: solid symbols (circles=females, squares=males) indicate clinically affected individuals; open symbols, unaffected individuals; and slashed symbols, deceased individuals. The affection status of the deceased individuals was obtained historically. Generation: I; first, II; second, III; third, and IV; fourth.

• 

  Figure 2 (a) Spontaneous nystagmus with fixation. The horizontal conjugate pendular nystagmus was predominant in the primary position. (b) Spontaneous nystagmus without fixation. The nystagmus was suppressed mildly when the fixation was removed. (c) Left-beating, upbeating, and counterclockwise (CCW) torsional nystagmus appears during leftward gaze. The slow phase is an increased velocity pattern (LH; left eye horizontal, LV; left eye vertical, RH; right eye horizontal, RV; right eye vertical, vel; velocity). Upward deflection in this and the following figures indicates rightward, upward, and clockwise (CW) eye motion.

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  Figure 3 Oculography of patient 2. (a) Left-beating, downbeating, and CCW torsional nystagmus appears in the primary position. (b) Right-beating, upbeating, and CW torsional nystagmus emerges during rightward gaze. (c) Left-beating, downbeating, and CCW torsional nystagmus develops during leftward gaze.

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  Figure 4 Oculography of patient 3. (a) Continuous horizontal pendular nystagmus appears in the primary position. (b) Right-beating nystagmus with a downbeat component develops during rightward gaze. (c) Nystagmus is suppressed during convergence.

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  Figure 5 Pedigree of family B.

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  Figure 6 Oculography of patient 4. (a) Spontaneous nystagmus is left beating in the primary position with fixation. (b) The spontaneous left-beating nystagmus changes to right-beating without fixation. (c) Optokinetic nystagmus is reversed.

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  Figure 7 Pedigree of family C.

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  Figure 8 Oculography of patient 5. (a) Predominantly left-beating nystagmus is observed with fixation. (b) The direction of the nystagmus changes to right beating with occasional null points (arrows) without fixation.

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