Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathy.

@article{Shankar2008EvidenceFA,
  title={Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathy.},
  author={Suma P Shankar and John H. Fingert and V Carelli and M L Valentino and Terri M. King and Stephen P. Daiger and Solange R Salom{\~a}o and Adriana Berezovsky and Rubens N. Belfort and Terri A Braun and Val C. Sheffield and Alfredo Arrigo Sadun and Edwin M. Stone},
  journal={Ophthalmic genetics},
  year={2008},
  volume={29 1},
  pages={17-24}
}
Leber Hereditary Optic Neuropathy (LHON) is a maternally inherited blinding disease caused by missense mutations in the mitochondrial DNA (mtDNA). However, incomplete penetrance and a predominance of male patients presenting with vision loss suggest that modifying factors play an important role in the development of the disease. Evidence from several studies suggests that both nuclear modifier genes and environmental factors may be necessary to trigger the optic neuropathy in individuals… CONTINUE READING