Clinical and Oculographic Findings of X-linked Congenital Nystagmus in Three Korean Families.
- Author:
Sun Young OH
1
;
Byong Soo SHIN
;
Ki Young JEONG
;
Jeong Min HWANG
;
Ji Soo KIM
Author Information
- Publication Type:Original Article
- Keywords: Congenital nystagmus; Video-oculography
- MeSH: Eye Movements; Head; Heredity; Humans; Nystagmus, Congenital*; Nystagmus, Optokinetic; Phenotype; Pursuit, Smooth; Reflex, Vestibulo-Ocular; Saccades; Strabismus; Vision Disorders
- From:Journal of Clinical Neurology 2007;3(3):139-146
- CountryRepublic of Korea
- Language:English
- 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.
