The heart in Leber's optic atrophy.

Restriction endonuclease analysis of leukocyte mitochondrial DNA in Leber's optic atrophy.

In order to test the hypothesis that Leber's optic atrophy may be caused by mutation of the mitochondrial (mt) genome, restriction fragment length polymorphism in leukocyte mt DNA was studied in 16 patients with Leber's optic atrophy, 28 of their unaffected matrilineal relatives, and 35 normal control subjects. No differences in restriction fragment patterns were observed between affected and u...

The Hereditary Optic Atrophies

There are a number of hereditary conditions in which optic atrophy may be a feature. These include skeletal conditions such as cranio-stenosis, some of the phakomatoses, congenital glaucoma and so on. In these conditions the optic atrophy is the result of a fairly obvious mechanism such as optic nerve compression, the effects of intraocular pressure on circulation in the nerve head or optic atr...

Further clinical and pathological observations on Leber's optic atrophy.

Exclusive homoplasmic 11778 mutation in mitochondrial DNA of Chinese patients with Leber's hereditary optic neuropathy.

PURPOSE To investigate the degree of heteroplasmy of the 11778 mtDNA mutation in Chinese patients with Leber's hereditary optic neuropathy (LHON). METHODS Seventeen Chinese Leber's pedigrees, including 24 patients, 17 unaffected maternal lineages, 4 internal controls, and 6 unrelated controls, were screened for the 11778 mtDNA mutation. This was carried out by analysis of the restriction frag...

Bilateral optic neuropathy with remission in young men. Variation on a theme by Leber?

Five young men had painless, progressive, bilateral loss of central vision with late optic atrophy. One had a family history of Leber's optic neuropathy. After being functionally blind for four to 21 months, spontaneous improvement began leading to remarkable recovery of vision in all patients. We propose that these are cases of Leber's optic neuropathy in which an unusual capacity for recovery...