Article: article from journal or magazin.
Case report (case report): feedback on an observation with a short commentary.
Isolated absence of optic chiasm revealed by congenital nystagmus, MRI and VEPs.
Publication types: Case Reports ; Journal Article - Publication Status: ppublish
Congenital nystagmus is a rare condition mainly characterised by rhythmic, conjugate, and horizontal oscillations of both eyes that persist in the vertical gaze. This disorder is usually noticed in the neonatal period and persists throughout life. It can be of sensory origin, associated with low visual acuity of various causes, or of motor origin, caused by a defect in the slow eye movement system. The former can be genetically determined. It can also be associated with several conditions, the most frequent being albinism. The achiasma syndrome has recently been recognized in two patients as an autosomal recessive inherited cause of congenital nystagmus. We report the case of the so far youngest reported baby having been diagnosed with the isolated achiasmatic condition, which presented with congenital nystagmus and see-saw nystagmus, and discuss its clinical findings and 18 months follow-up. The achiasmatic syndrome should be included in the differential diagnosis of congenital nystagmus, as all the described cases presented like that. Complete investigations should be performed to allow the best evolution and follow-up of these children.
Evoked Potentials, Visual/physiology, Humans, Infant, Infant, Newborn, Magnetic Resonance Imaging, Nystagmus, Congenital/etiology, Nystagmus, Congenital/pathology, Optic Chiasm/abnormalities, Optic Chiasm/pathology
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