J Korean Neurol Assoc.
1998 Feb;16(1):95-98.
2 Cases of Leber's Hereditory Optic Neuropathy Confirmed by Molecular Genetics.
- Affiliations
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- 1Department of Neurology, Inje University, College of Medicine.
- 2Department of Ophthalmology, Inje University, College of Medicine.
- 3Department of Ophthalmology, Borame Seoul City Hospital.
Abstract
- Leber's Hereditary Optic Neuropathy(LHON) is a maternally inherited disorders that occurs primarily in young males and is characterized by subacute, sequential, bilateral central visual loss, ultimately, optic atrophy. We report 2 cases of molecularly confirmed LHON which reveal 11778 and 14484 mitochondral DNA mutation, respectively but there is no family history of visual loss. So the diagnosis of LHON deserves to be considered in all crypotogenic cases of acute or subacute optic or chiasmal neuropathy. Late or early age at onset, female gender, and a negative family history should not be dissuasive.
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