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Congenital Achiasma and See-Saw Nystagmus in VACTERL Syndrome

Congenital Achiasma and See-Saw Nystagmus in VACTERL Syndrome JOURNAL OF NEURO-OPHTHALMOLOGY Prakash, S., Dumoulin, S. O., Fischbein, N., Wandell, B. A., Liao, Y. J. 2010; 30 (1): 45-48

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.

View details for DOI 10.1097/WNO.0b013e3181c28fc0

View details for Web of Science ID 000275061500012

View details for PubMedID 20182207

View details for PubMedCentralID PMC3550004