Late onset Leber's optic neuropathy: a case confused with ischaemic optic neuropathy.
A case is reported of a 63-year-old man with progressive central visual loss in one eye followed 11 months later by involvement of the fellow eye. A diagnosis of chronic ischaemic optic neuropathy was considered. However, despite a negative family history, the absence of electrocardiographic abnormalities, and minimal fundus changes a diagnosis of Leber's optic neuropathy was made on the basis of magnetic resonance imaging findings and the mitochondrial DNA mutation at base pair 11778.
Borruat
F X
FX
National Hospital for Neurology and Neurosurgery, Neuro-Ophthamology Unit, Queen Square, London.
Green
W T
WT
Graham
E M
EM
Sweeney
M G
MG
Morgan-Hughes
J A
JA
Sanders
M D
MD
D004272:DNA, Mitochondrial / Q000032:analysis; D003937:Diagnosis, Differential; D005451:Fluorescein Angiography; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D015418:Optic Atrophies, Hereditary / Q000175:diagnosis* / Q000235:genetics; D009896:Optic Atrophy / Q000175:diagnosis; D009900:Optic Nerve / Q000473:pathology
D004272:DNA, Mitochondrial