Clinical and Oculographic Findings of X-linked Congenital Nystagmus in Three Korean Families
Journal of Clinical Neurology
;
: 139-146, 2007.
Artigo
em Inglês
| 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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fenótipo
/
Acompanhamento Ocular Uniforme
/
Movimentos Sacádicos
/
Transtornos da Visão
/
Reflexo Vestíbulo-Ocular
/
Estrabismo
/
Nistagmo Optocinético
/
Nistagmo Congênito
/
Hereditariedade
/
Movimentos Oculares
Tipo de estudo:
Estudo diagnóstico
Limite:
Humanos
Idioma:
Inglês
Revista:
Journal of Clinical Neurology
Ano de publicação:
2007
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS