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

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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.

Autore Pugliese

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  • ATTIMONELLI M.;PETRUZZELLA V.

Titolo volume/Rivista

Non Disponibile

Anno di pubblicazione

2010

ISSN

0340-5354

ISBN

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Numero di citazioni Wos

9

Ultimo Aggiornamento Citazioni

Non Disponibile

Numero di citazioni Scopus

10

Ultimo Aggiornamento Citazioni

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Settori ERC

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Codici ASJC

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