Late-onset Leber hereditary optic neuropathy mimicking Susac's syndrome.
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.
Zoccolella
Stefano
S
Clinic of Nervous System Diseases, Department of Medical and Occupational Sciences, University of Foggia, Viale Luigi Pinto, 71100, Foggia, Italy.
Petruzzella
Vittoria
V
Prascina
Francesco
F
Artuso
Lucia
L
Pacillo
Francesca
F
Dell'Aglio
Rosa
R
Avolio
Carlo
C
Delle Noci
Nicola
N
Attimonelli
Marcella
M
Specchio
Luigi Maria
LM
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