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01-12-2010 | Original Communication

Late-onset Leber hereditary optic neuropathy mimicking Susac’s syndrome

Authors: Stefano Zoccolella, Vittoria Petruzzella, Francesco Prascina, Lucia Artuso, Francesca Pacillo, Rosa Dell’Aglio, Carlo Avolio, Nicola Delle Noci, Marcella Attimonelli, Luigi Maria Specchio

Published in: Journal of Neurology | Issue 12/2010

Abstract

Leber hereditary optic neuropathy (LHON) is a mitochondrial disorder characterized by bilateral painless optic atrophy and blindness. It usually occurs in young men in association with three major mutations in the mitochondrial genome (mtDNA). We report a patient with a history of alcohol abuse who developed at age 63 years visual impairment, sensorineural hearing loss, and memory dysfunction, suggestive of Susac’s syndrome. The patient carried the heteroplasmic mt. 11778G>A mutation on the T2e mtDNA haplogroup. It remains unclear if chronic alcohol abuse combined with the mitochondrial genetic background prompted an aged-related neurodegeneration or deferred the onset of the LHON disease.

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Title: Late-onset Leber hereditary optic neuropathy mimicking Susac’s syndrome
Authors: Stefano Zoccolella
Vittoria Petruzzella
Francesco Prascina
Lucia Artuso
Francesca Pacillo
Rosa Dell’Aglio
Carlo Avolio
Nicola Delle Noci
Marcella Attimonelli
Luigi Maria Specchio
Publication date: 01-12-2010
Publisher: Springer-Verlag
Published in: Journal of Neurology / Issue 12/2010
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-010-5649-6

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Late-onset Leber hereditary optic neuropathy mimicking Susac’s syndrome

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

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