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Leber's Hereditary Optic Neuropathy, New Genetic Considerations
Arch Neurol 50:540-548, Newman,N.J., 1993
See this aricle in Pubmed

Article Abstract
Leber's hereditary optic neuropathy,a maternally inherited disease primarily of young men,results in bilateral,acute or subacute,central visual loss and,ultimately,optic atrophy.Point mutations in the mitochondrial genes encoding proteins essential to oxidative phosphorylation have been associated with this disorder.Primary mutations include those found at positions 11778,3460,and,possibly,15257 and 14484. Mitochondrial,nuclear,and environmental factors may modify phenotypic expression.Genetic analysis has allowed for a broader view of what constitutes the clinical phenotype of LHON.
 
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familial
fundus,abnormality of
funduscopic exam
genetic neurologic disorders
Leber's hereditary optic neuropathy
molecular genetics
optic atrophy
optic atrophy,hereditary
review article
scotoma
scotoma,central
treatment of neurologic disorder
visual acuity,decreased
visual field defect
visual loss

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