title: Absent optic chiasm presenting with horizontal nystagmus.
abstract: A female infant with horizontal nystagmus and normal ophthalmic examination had isolated absence of the optic chiasm on magnetic resonance imaging. Eye movements were recorded on video and reviewed. Horizontal nystagmus without see-saw nystagmus was observed. Visual evoked potential showed inter-hemispheric asymmetry compatible with the absence of crossing chiasmal fibers. Systemic abnormalities in this patient included cleft lip, preauricular skin tags, broad thumbs, and an anteriorly positioned anus, suggestive of Townes-Brock syndrome.
authors.affiliation: Department of Ophthalmology, Yale University School of Medicine, New Haven, CT 06510, USA.
authors.forename: Daniel J
authors.initials: DJ
authors.lastname: Salchow
authors.forename: Jürgen
authors.initials: J
authors.lastname: Kohlhase
authors.forename: Marijean
authors.initials: M
authors.lastname: Miller
authors.forename: Nadja
authors.initials: N
authors.lastname: Kadom
authors.forename: Edmond J
authors.initials: EJ
authors.lastname: FitzGibbon
authors.forename: Rafael C
authors.initials: RC
authors.lastname: Caruso
authors.forename: Brian P
authors.initials: BP
authors.lastname: Brooks
mesh_terms: D003937:Diagnosis, Differential; D005074:Evoked Potentials, Visual; D005133:Eye Movements; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D009759:Nystagmus, Pathologic / Q000151:congenital* / Q000175:diagnosis / Q000503:physiopathology; D009897:Optic Chiasm / Q000002:abnormalities*