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.
Publication types
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Case Reports
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Anus, Imperforate / complications*
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Brain / blood supply
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Brain / pathology
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Evoked Potentials, Visual / physiology
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Heart Defects, Congenital / complications*
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Humans
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Image Processing, Computer-Assisted
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Kidney Diseases / complications*
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Limb Deformities, Congenital / complications*
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Magnetic Resonance Imaging / methods
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Male
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Nystagmus, Congenital / diagnosis
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Nystagmus, Congenital / etiology*
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Nystagmus, Pathologic / diagnosis
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Nystagmus, Pathologic / etiology*
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Oxygen / blood
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Spinal Diseases / complications*
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Spinal Diseases / congenital
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Tracheoesophageal Fistula / complications*