2 Cases of Leber's Hereditory Optic Neuropathy Confirmed by Molecular Genetics
Journal of the Korean Neurological Association
;
: 95-98, 1998.
Article
Dans Coréen
| WPRIM
| ID: wpr-161943
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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
ADN
/
Atrophie optique
/
Atteintes du nerf optique
/
Diagnostic
/
Biologie moléculaire
Type d'étude:
Etude diagnostique
Limites du sujet:
Femelle
/
Humains
/
Mâle
langue:
Coréen
Texte intégral:
Journal of the Korean Neurological Association
Année:
1998
Type:
Article
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