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The diagnosis of LHON remained unknown in six female patients with bilateral optic neuropathies until molecular analysis revealed the 11778 mitochondrial DNA mutation.None of the patients had a family history of visual loss,and five were initially diagnosed as having factitious visual loss.Other individual features atypical for LHON included lack of the characteristic LHON funduscopic appearance,bitemporal hemianopia,optic disc cupping,and premonitory episodes of transient visual loss.In one patient the correct diagnosis was delayed 17 years.The diagnosis of LHON should be considered in all cases of unexplained optic neuropathy, including those with negative family history,late or early age at onset, female gender,or normal funduscopic appearance. |
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