Optic atrophy in end-stage giant axonal neuropathy: A case report

T. J. Wubben, A. O. Eghrari, A. N. McCoy, D. J. Ramsey

Research output: Contribution to journalArticlepeer-review


A 32-year-old woman with a history of biopsy-proven giant axonal neuropathy (GAN) and no past ocular history presented after failing a vision-screening test conducted by her primary doctor. Bilateral optic atrophy was observed on fundus examination with cup-to-disc ratio of 0.7. Kinetic visual fields showed moderate constriction in both eyes. Optical coherence tomography (OCT) of the retinal nerve fibre layer (RNFL) exhibited diffuse thinning, a pattern atypical of glaucomatous or nutritional optic atrophy and most likely secondary to the optic atrophy associated with GAN. Serial OCT to monitor RNFL thickness may offer a non-invasive means of monitoring progression in GAN for future therapeutic studies.

Original languageEnglish (US)
Pages (from-to)209-213
Number of pages5
Issue number5
StatePublished - Oct 2013


  • Giant axonal neuropathy
  • Non-glaucomatous cupping
  • OCT
  • Optic atrophy
  • Retinal nerve fibre layer

ASJC Scopus subject areas

  • Ophthalmology
  • Clinical Neurology


Dive into the research topics of 'Optic atrophy in end-stage giant axonal neuropathy: A case report'. Together they form a unique fingerprint.

Cite this