Risk Factors Associated With Leber Hereditary Optic Neuropathy due to Rare Mutations in Mitochondrial DNA-Encoded Respiratory Complex I Subunits.

Abstract excerpt

An in-depth analysis of susceptibility factors modifying the penetrance of rare Leber hereditary optic neuropathy-causing mutations in respiratory complex I genes encoded in mitochondrial deoxyribonucleic acid has not been performed. To bridge this gap, we conducted a review of the literature on rare mutations associated with LHON, selected those with substantial evidence of pathogenicity, and performed an...

Topics

• Humans
• Optic Atrophy, Hereditary, Leber
• Electron Transport Complex I
• DNA, Mitochondrial
• Mutation
• Risk Factors
• Pedigree
• Genetic Predisposition to Disease
• Male
• Female
• Penetrance