The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation.

doi:10.1093/brain/118.2.319

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Article

The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation.

Brain : a journal of neurology - 1 Apr 1995

Riordan-Eva P, Sanders M D, Govan G G, Sweeney M G, Da Costa J, Harding A E

Abstract excerpt

One hundred and seven patients from 79 families were defined as having Leber's hereditary optic neuropathy (LHON) by the presence of one of the mitochondrial DNA (mtDNA) mutations at positions 11778 (60 families), 3460 (seven families) or 14484 (12 families). Only half of the 11778 index patients...

Topics

Adolescent
Adult
Child
DNA, Mitochondrial
Female
Humans
Male
Middle Aged
Mutation
Optic Atrophies, Hereditary
Retina
Retinal Vessels
Visual Acuity
Visual Fields

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