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Leber's hereditary optic neuropathy(LHON)is a rare,maternally transmitted disease that most commonly causes acute or subacute visual loss in young men,typically between the ages of 17 and 24 years(although perhaps 14%of affected individuals are women),which may be associated with systemic disorders,eg,cardiac dysrhythmias and neurologic problems.Onset is usually asymmetric,but intervals between involvement of the two eyes are usually less than a few months.A definitive diagnosis rested on a family history, age of onset,and the characteristic circumpapillary microangiopathy of the optic disc in the acute phase.However,recent demonstration of point mutations of mitochondrial DNA in affected individuals means that confirmation of the diagnosis can now be obtained in atypical or sporadic cases.One result of this is increasing recognition of a larger age range of patients(up to 70 years)with symptomatic onset of LHON.Here we present a proven case of LHON in a boy who initially had minimal symptoms at age 7 years 3 months,emphasizing the need for pediatricians to be aware of this disease. |
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