Article
[Atypical presentation of Leber's optic neuropathy].
Klinische Monatsblatter fur Augenheilkunde - 1 May 1994
Borruat F X, Sanders M D
Abstract excerpt
BACKGROUND: Leber's optic neuropathy (LON) is the phenotypic expression of an inherited disorder due to a mitochondrial DNA mutation. Numerous loci of a point mutation in the mitochondrial genome are reported: 3460, 4160, 11778, 14484 and, 15257. Typically visual loss occurs in young males and a positive family history is found. Peripapillary telangiectasias are reported to be diagnostic for the disease and...
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