Optic Atrophy in End-Stage Giant Axonal Neuropathy: A Case Report. (October 2013)

• Record Type: Journal Article
• Authors: Wubben, T. J.; Eghrari, A. O.; McCoy, A. N.; Ramsey, D. J.
• Is Part Of: Neuro-ophthalmology. Volume 37:Number 5(2013:Oct.)
• Page Start: 209
• Page End: 213
• Publication Date: 2013-10
• Subjects: Neuroophthalmology -- Periodicals; 617.7
• DOI: 10.3109/01658107.2013.814149
• Languages: English
• ISSNs: 0165-8107

Abstract

<abstract> <title>Abstract</title> <p>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.</p> </abstract>