title: Familial congenital oculomotor apraxia: clinical and electro-oculographic features.
abstract: The electro-oculographic (EOG) features of both horizontal and vertical eye movements in congenital oculomotor apraxia (COMA) were not previously reported. A girl referred to the ophthalmologic department for abnormal eye movements was diagnosed as COMA. The same abnormal ocular movements were observed in her younger sister and her father who was unaware of his difficulties to initiate voluntary saccades. When performed, EOG recordings of all horizontal and vertical saccadic eye movements were severely altered whatever the age of the patient. Pursuit was normal for these patients. It confirms that the control of saccadic eye movements is still altered in adults in both directions horizontal and vertical that were never reported. EOG is necessary to rule out inherited form of this saccade initiation failure.
authors.affiliation: Service d'Ophtalmologie, Hôpital Necker Enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France. Christophe.Orssaud@egp.aphp.fr
authors.forename: Christophe
authors.initials: C
authors.lastname: Orssaud
authors.forename: Isabelle
authors.initials: I
authors.lastname: Ingster-Moati
authors.forename: Olivier
authors.initials: O
authors.lastname: Roche
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Bui Quoc
authors.forename: Jean Louis
authors.initials: JL
authors.lastname: Dufier
mesh_terms: D000328:Adult; D001072:Apraxias / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D002675:Child, Preschool; D004585:Electrooculography / Q000379:methods*; D005192:Family Health; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D015835:Ocular Motility Disorders / Q000150:complications / Q000175:diagnosis / Q000235:genetics