A Young Man With Progressive Vision and Hearing Loss

JAMA Neurol. 2016 Jul 1;73(7):880-3. doi: 10.1001/jamaneurol.2016.1336.

Abstract

A 37-year-old man with a history of progressive bilateral sensorineural hearing loss presented to a neuro-ophthalmology clinic with an acute left homonymous hemianopsia. In this article, we discuss the clinical approach and differential diagnosis of progressive combined vision and hearing loss and guide the reader to discover the patient's ultimate diagnosis.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Deaf-Blind Disorders* / diagnostic imaging
  • Deaf-Blind Disorders* / genetics
  • Deaf-Blind Disorders* / metabolism
  • Deaf-Blind Disorders* / therapy
  • Disease Progression
  • Electron Transport Complex IV / metabolism
  • Humans
  • Male
  • Muscle Fibers, Skeletal / metabolism
  • Muscle Fibers, Skeletal / pathology
  • Mutation / genetics
  • Succinate Dehydrogenase / genetics
  • Succinate Dehydrogenase / metabolism
  • Tomography Scanners, X-Ray Computed

Substances

  • Succinate Dehydrogenase
  • Electron Transport Complex IV