Late-onset Leber’s hereditary optic neuropathy: the role of environmental factors in hereditary diseases
نویسندگان
چکیده
منابع مشابه
Childhood-onset Leber hereditary optic neuropathy.
BACKGROUND The onset of Leber hereditary optic neuropathy (LHON) is relatively rare in childhood. This study describes the clinical and molecular genetic features observed in this specific LHON subgroup. METHODS Our retrospective study consisted of a UK paediatric LHON cohort of 27 patients and 69 additional cases identified from a systematic review of the literature. Patients were included i...
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: BMJ Case Reports
سال: 2019
ISSN: 1757-790X
DOI: 10.1136/bcr-2018-227977