It is not your eyes

Surv Ophthalmol. 2020 Jul-Aug;65(4):487-493. doi: 10.1016/j.survophthal.2019.04.004. Epub 2019 Apr 19.


A 55-year-old woman reported blurred vision while walking, numbness and tingling, contact allodynia, and gait imbalance. Visual acuity was 20/20 in both eyes, but there was a loss of 4 lines with horizontal dynamic visual acuity testing. Ocular motility examination demonstrated spontaneous downbeat nystagmus that increased in lateral gaze with a torsional component and impaired smooth pursuits. Head impulse test was positive, and electromyography demonstrated a sensory neuropathy/neuronopathy. Vestibular testing confirmed both central ocular motor pathway and bilateral peripheral vestibular system involvement. The constellation of clinical findings and paraclinical testing was consistent with a recently recognized neurodegenerative disorder termed cerebellar ataxia with neuropathy and vestibular areflexia syndrome.

Keywords: cerebellar ataxia; dynamic visual acuity; head impulse test; nystagmus; vestibulo-ocular reflex.

Publication types

  • Case Reports

MeSH terms

  • Brain / pathology
  • Cerebellar Ataxia / complications*
  • Cerebellar Ataxia / diagnosis
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Middle Aged
  • Nystagmus, Pathologic / etiology*
  • Nystagmus, Pathologic / physiopathology
  • Syndrome