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LEBERS HEREDITARY OPTIC NEUROPATHY (LHON)

LEBERS HEREDITARY OPTIC NEUROPATHY (LHON)
LEBER OPTIC ATROPHY; OPTIC ATROPHY, LEBER TYPE
535000
OMIM = Online Mendelian Inheritance of Men
104
mtDNA
H47.2
rare
mitochondrial inheritance
mitochondrial DNA point mutations that affect the ND subunits of complex I [Baracca et al. 2005]
Laboratory findings
Symptoms    ataxia
    blindness, visual loss, visual impairment
    cardiac arrhythmia, dysrhythmia
    dystonia
    ECG abnormalities [-]
    headache (severe, recurrent or occipital, migraine)
    myopathy
    neuropathy
    onset, adolescent
    onset, adulthood
    onset, childhood
    optic atrophy
    peripheral neuropathy
    tremor or twitching
    vision loss