Title |
Congenital achiasma and see-saw nystagmus in VACTERL syndrome. |
Creator |
Prakash, Saurabh; Dumoulin, Serge O; Fischbein, Nancy; Wandell, Brian A; Liao, Yaping Joyce |
Affiliation |
Department of Ophthalmology, Stanford University School of Medicine, Stanford, California, USA. |
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. |
Subject |
Adult; Anus, Imperforate; Brain; Evoked Potentials, Visual; Heart Defects, Congenital; Humans; Image Processing, Computer-Assisted; Kidney Diseases; Limb Deformities, Congenital; Magnetic Resonance Imaging; Male; Nystagmus, Congenital; Nystagmus, Pathologic; Oxygen; Spinal Diseases; Tracheoesophageal Fistula |
Format |
application/pdf |
Publication Type |
Journal Article |
Collection |
Neuro-Ophthalmology Virtual Education Library: Journal of Neuro-Ophthalmology Archives: https://novel.utah.edu/jno/ |
Publisher |
Lippincott, Williams & Wilkins |
Holding Institution |
Spencer S. Eccles Health Sciences Library, University of Utah |
Rights Management |
© North American Neuro-Ophthalmology Society |
Setname |
ehsl_novel_jno |
ID |
227024 |
Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6m07bj2/227024 |