title: Late-onset Leber hereditary optic neuropathy mimicking Susac's syndrome.
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.
authors.affiliation: Clinic of Nervous System Diseases, Department of Medical and Occupational Sciences, University of Foggia, Viale Luigi Pinto, 71100, Foggia, Italy.
authors.forename: Stefano
authors.initials: S
authors.lastname: Zoccolella
authors.forename: Vittoria
authors.initials: V
authors.lastname: Petruzzella
authors.forename: Francesco
authors.initials: F
authors.lastname: Prascina
authors.forename: Lucia
authors.initials: L
authors.lastname: Artuso
authors.forename: Francesca
authors.initials: F
authors.lastname: Pacillo
authors.forename: Rosa
authors.initials: R
authors.lastname: Dell'Aglio
authors.forename: Carlo
authors.initials: C
authors.lastname: Avolio
authors.forename: Nicola
authors.initials: N
authors.lastname: Delle Noci
authors.forename: Marcella
authors.initials: M
authors.lastname: Attimonelli
authors.forename: Luigi Maria
authors.initials: LM
authors.lastname: Specchio
mesh_terms: D003937:Diagnosis, Differential; D006801:Humans; D008297:Male; D008875:Middle Aged; D029242:Optic Atrophy, Hereditary, Leber / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D055955:Susac Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology