Case report
Congenital achiasma and see-saw nystagmus in VATER syndrome association with hydrocephalus

https://doi.org/10.1016/j.jocn.2018.02.008Get rights and content

Highlights

  • A case of congenital achiasma and see-saw nystagmus with VATER association and hydrocephalus.

  • fMRI showed isolated activation of the ipsilateral visual cortex upon stimulation.

  • Despite the lack of nasal retinal fiber decussation, visual field was intact.

  • Suspect achiasma as a differential diagnosis if congenital see-saw nystagmus is present.

  • Neuroimaging should be considered for VATER/VACTERL to exclude hydrocephalus.

Introduction

Congenital achiasma, characterized by the absence of decussation of nasal optic nerve fibers, is an unique disorder which may possess a genetic aetiology [1]. VATER/VACTERL association is a congenital condition defined by the presence of at least three of the following malformations: vertebral defects, anal atresia, cardiac defects, trachea-esophageal fistula, renal anomalies and limb abnormalities [2]. We describe, to the best of our knowledge, the first case of congenital achiasma and see-saw nystagmus in a patient with VATER association who also had hydrocephalus.

Section snippets

Case study

A 40-year-old Caucasian man, previously diagnosed with VATER association, was referred to Neurosurgery and Ophthalmology for review of his hydrocephalus and congenital nystagmus. Born at full-term, he underwent tracheo-oesophageal fistula and anal atresia repair shortly after birth. He also had scoliosis from hemivertebrae. There was no cardiac or renal impairment or limb defects. The patient otherwise had an unremarkable developmental history.

On examination, his best-corrected visual acuity

Discussion

Despite the lack of nasal retinal fiber decussation, our patient maintained a complete visual field, in contrast to the bitemporal field loss expected from an acquired achiasma. This finding is consistent with previously reported cases of congenital achiasma [3], [4], [5]. For full visual field representation, non-decussating nasal fibers must form connections with the ipsilateral visual cortex. Davies-Thompson et al reported fMRI in an individual with congenital achiasma demonstrating an

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