Leber's hereditary optic neuropathy: the neurologist point of view
نویسندگان
چکیده
منابع مشابه
lack of association between lebers hereditary optic neuropathy primary point mutations and multiple sclerosis in iran
the hypothesis that mitochondrial genes may be implicated in susceptibility to multiple sclerosis (ms) is supported by an increasing number of case reports on lebers hereditary optic neuropathy (lhon)-associated mitochondrial dna (mtdna) point mutations in patients with ms. a number of mtdna mutations with primary pathogenic significance for lhon, a maternally inherited disease causing severe b...
متن کاملthe spectrum of mitochondrial dna mutations in iranian lebers hereditary optic neuropathy patients
we studied 74 patients with lebers hereditary optic neuropathy (lhon) to investigate causative mtdna mutations (g3460a, g11778a, t14484c, g4459a) in iranian lhon patients. fifty two patients carried the mitochondrial dna (mtdna) g11778a mutation, while one had the t14484c mutation 4 patients had the g3460a mutation and one had the g14459a mutation. our results showed a similarity in the pattern...
متن کامل[Leber's hereditary optic neuropathy].
233 personal cases of leber's optic neuropathy have been analyzed by the authors in order to present clinical symptoms, evolution and genetic aspects. A group of 23 patients, in which 7 presented the disease and the others were asymptomatic members of families with the disease, was analyzed on evaluation of abnormalities of evoked visual responses; An other similar group, in repartition of subj...
متن کاملLeber’s Hereditary Optic Neuropathy
Four new missense mutations have been identified through restriction analysis and sequencing of the mitochondrial DNAs (mtDNA) from Leber’s hereditary optic neuropathy (LHON) patients who lacked the previously identified 1 1778 mutation. Each altered a conserved amino acid and correiated with the LHON phenotype in population and phylogenetic analyses. The nucleotide pair (np) 13708 mutation (G ...
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ژورنال
عنوان ژورنال: Acta Ophthalmologica
سال: 2017
ISSN: 1755-375X
DOI: 10.1111/j.1755-3768.2017.02322