Optic Atrophy in End-Stage Giant Axonal Neuropathy: A Case Report

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 field...

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Bibliographic Details
Published in:Neuro-ophthalmology (Aeolus Press) 2013, Vol.37 (5), p.209-213
Main Authors: Wubben, T J, Eghrari, A O, McCoy, A N, Ramsey, D J
Format: Report
Language:English
Online Access:Get full text
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Summary: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.
ISSN:0165-8107
DOI:10.3109/01658107.2013.814149