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

Abstract 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 vis...

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Veröffentlicht in:Neuro-ophthalmology (Amsterdam : Aeolus Press. 1980) 2013-10, Vol.37 (5), p.209-213
Hauptverfasser: Wubben, T. J., Eghrari, A. O., McCoy, A. N., Ramsey, D. J.
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container_title Neuro-ophthalmology (Amsterdam : Aeolus Press. 1980)
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creator Wubben, T. J.
Eghrari, A. O.
McCoy, A. N.
Ramsey, D. J.
description Abstract 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.
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title Optic Atrophy in End-Stage Giant Axonal Neuropathy: A Case Report
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