Leber hereditary optic neuropathy (LHON): clinical features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Leber hereditary optic neuropathy (LHON): clinical features. G11778A: this has the worst outcome. Fully referenced neurology checklist.
Genetic point mutations
- G11778A: this has the worst outcome
- T14484C: this has the best outcome
- G3460A
Genetics
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Onset features
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Central visual loss
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Visual signs
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Cardiac features
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Neurological features
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LHON+
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Differential diagnosis
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Prognostic features of poor recovery
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References
- Yu-Wai-Man P, Griffiths PG, Hudson G, Chinnery PF. Inherited mitochondrial optic neuropathies. J Med Genet 2009; 46: 145-158.
- Riordan-Eva P, Harding AE. Leber's hereditary optic neuropathy: the clinical relevance of different mitochondrial DNA mutations. J Med Genet 1995; 32:81-87.
- Man PYW, Turnbull DM, Chinnery PF. Leber hereditary optic neuropathy. J Med Genet 2002; 39:162-169.
- McFarland R, Turnbull DM. Batteries not included: diagnosis and management of mitochondrial disease. J Intern Med 2009; 265:210-228.
- Zeviani M, Di Donato S. Mitochondrial disorders. Brain 2004; 127:2153-2172.
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