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Leber's hereditary optic neuropathy: clinical and molecular genetic aspects. Preliminary results in our families.

par Van Caelenberghe, E;Meire, Françoise M;Broux, C;Vassart, Gilbert ;Cochaux, Pascale
Référence Bulletin de la Société belge d'ophtalmologie, 243, page (139-146)
Publication Publié, 1992

Article révisé par les pairs

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Résumé :

Leber's hereditary optic neuropathy (LHON) is a genetic maternally transmitted disorder characterised by sudden bilateral loss of vision. The discovery of at least one mitochondrial DNA mutation associated with the disease has provided the basis for a molecular diagnosis in about 50% of families with LHON. We present a brief review of the clinical and molecular genetic aspects of LHON along with our results in 13 patients.