Article
Leber's hereditary optic neuropathy: clinical and molecular genetic aspects. Preliminary results in our families.
Bulletin de la Societe belge d'ophtalmologie - 1 Jan 1992
Van Caelenberghe E, Meire F, Broux C, Vassart G, Cochaux P
Abstract excerpt
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...
Topics
- Adolescent
- Adult
- Child
- DNA
- DNA, Antisense
- Female
- Humans
- Male
- Mutation
- Optic Atrophies, Hereditary
- Polymerase Chain Reaction
- Visual Acuity