Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 11-04-2012
Symbol LHON
Location mt
HGNC id 6591
Name Leber hereditary optic neuropathy
Corresponding gene MT-ND6 , MT-ND1 , MT-ND2 , MT-ND4 , MT-ND4L , MT-ND5 , COX1 , MT-CO3 , MT-CYB , MT-ATP6
related resource Retinal Information Network
Other symbol(s) LON
Main clinical features
  • subacute degeneration of retinal ganglion cells (RGCs) leading to optic nerve atrophy and bilateral loss of central vision, prevalently in young males (Pello 2008)
  • maybe associated with increased susceptibility to an atypical form of multiple sclerosis with prominent optic neuritis
    • Genetic determination mitochondrial
    Related entries including LHON with cerebellar ataxia
    Function/system disorder eye
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     NADH dehydrogenase subunits ND4 (G11778A and G11696A), ND2 (5244nt), ND1 (nt3460, nt4216, G3635A), ND5, ND4L (nt10663), ND6 (14459nt, T14484C, G14459A ), cytochrome oxidase COI, COIII, cyt b, ATPase6 (9101nt) . mutations 3460G > A in ND1 (3460/ND1), 11778G > A in ND4 (11778/ND4), and 14484T > C in ND6 (14484/ND6), in 95p 100 of cases
    Remark(s) the disease has been associated with many missense mutations in the mtDNA that can act autonomously or in association with each other; 3 primary mutations at basepairs 11778, 3460, and 14484 are present in at least 90% of families.
    Genotype/Phenotype correlations two mutations A3203G and G14459A are associated with Leber hereditary optic neuropathy with dystonia; there is a correlation between the 14484 mutation and a good visual prognosis