title: Congenital achiasma and see-saw nystagmus in VACTERL syndrome.
abstract: A 29-year-old man with vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal defects, and limb defects (VACTERL) presented with headache, photophobia, and worsening nystagmus. He had near-normal visual acuity and visual fields, absent stereopsis, and see-saw nystagmus. Brain MRI revealed a thin remnant of the optic chiasm but normal-sized optic nerves. Functional MRI during monocular visual stimulation demonstrated non-crossing of the visual evoked responses in the occipital cortex, confirming achiasma. These findings have not previously been reported in VACTERL.
authors.affiliation: Department of Ophthalmology, Stanford University School of Medicine, Stanford, California, USA.
authors.forename: Saurabh
authors.initials: S
authors.lastname: Prakash
authors.forename: Serge O
authors.initials: SO
authors.lastname: Dumoulin
authors.forename: Nancy
authors.initials: N
authors.lastname: Fischbein
authors.forename: Brian A
authors.initials: BA
authors.lastname: Wandell
authors.forename: Yaping Joyce
authors.initials: YJ
authors.lastname: Liao
mesh_terms: D000328:Adult; D001006:Anus, Imperforate / Q000150:complications*; D001921:Brain / Q000098:blood supply / Q000473:pathology; D005074:Evoked Potentials, Visual / Q000502:physiology; D006330:Heart Defects, Congenital / Q000150:complications*; D006801:Humans; D007091:Image Processing, Computer-Assisted; D007674:Kidney Diseases / Q000150:complications*; D017880:Limb Deformities, Congenital / Q000150:complications*; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D020417:Nystagmus, Congenital / Q000175:diagnosis / Q000209:etiology*; D009759:Nystagmus, Pathologic / Q000175:diagnosis / Q000209:etiology*; D010100:Oxygen / Q000097:blood; D013122:Spinal Diseases / Q000150:complications* / Q000151:congenital; D014138:Tracheoesophageal Fistula / Q000150:complications*
chemical_list: D010100:Oxygen