Is all nondefinable optic atrophy Leber's hereditary optic neuropathy?
Leber's hereditary optic neuropathy has been considered a bilateral, sequential hereditary optic neuropathy occurring overwhelmingly in young men. Until recently the diagnosis has been based on clinical criteria: severe loss of vision associated with central scotomas and classic ophthalmoscopic findings (circumpapillary telangiectatic microangiopathy, pseudoedema of the disk with absence of staining on fluorescein angiography, tortuous vessels in the early stages and eventually optic disk pallor). In 1988 a genetic mutation associated with Leber's hereditary optic neuropathy affecting mitochondrial DNA was recognized. Subsequently other mutations have been discovered as well. The ability to identify these patients technically has allowed us to recognize cases that do not fit our previous clinical criteria. One such case is presented and the question asked is whether the findings are related to the clinical course.
Swartz
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Neuro-Ophthalmology Service, Wills Eye Hospital, Philadelphia, Pennsylvania.
Savino
P J
PJ
D002648:Child; D004272:DNA, Mitochondrial; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D009154:Mutation; D015418:Optic Atrophies, Hereditary / Q000175:diagnosis* / Q000503:physiopathology; D009898:Optic Disk / Q000473:pathology; D014794:Visual Fields
D004272:DNA, Mitochondrial