It is not your eyes

Devon A Cohen; M Tariq Bhatti; John J Chen; Michelle L Mauermann; Daniel R Gold

doi:10.1016/j.survophthal.2019.04.004

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.

Authors

Devon A Cohen¹, M Tariq Bhatti², John J Chen³, Michelle L Mauermann¹, Daniel R Gold⁴

Affiliations

¹ Department of Neurology, Mayo Clinic College of Medicine Rochester, Minnesota, USA.
² Department of Neurology, Mayo Clinic College of Medicine Rochester, Minnesota, USA; Department of Ophthalmology, Mayo Clinic College of Medicine Rochester, Minnesota, USA. Electronic address: bhatti.muhammad@mayo.edu.
³ Department of Neurology, Mayo Clinic College of Medicine Rochester, Minnesota, USA; Department of Ophthalmology, Mayo Clinic College of Medicine Rochester, Minnesota, USA.
⁴ Department of Neurology and Neurosurgery, The John Hopkins University School of Medicine, Baltimore, Maryland, USA; Department of Ophthalmology, The John Hopkins University School of Medicine Baltimore, Maryland, USA; Department of Otolaryngology - Head and Neck Surgery, The John Hopkins University School of Medicine, Baltimore, Maryland, USA; Department of Emergency Medicine, The John Hopkins University School of Medicine, Baltimore, Maryland, USA.

PMID: 31009615
DOI: 10.1016/j.survophthal.2019.04.004

Abstract

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