Leber's hereditary optic neuropathy is associated with the mitochondrial ND6 T14484C mutation in three Chinese families.

@article{Sun2006LebersHO,
  title={Leber's hereditary optic neuropathy is associated with the mitochondrial ND6 T14484C mutation in three Chinese families.},
  author={Yan-Hong Sun and Qi-ping Wei and Xiangtian Zhou and Yaping Qian and Jian Zhou and Fangzhou Lu and Jia Qu and Min-Xin Guan},
  journal={Biochemical and biophysical research communications},
  year={2006},
  volume={347 1},
  pages={221-5}
}
We report here the clinical, genetic, and molecular characterization of three Chinese families with maternally transmitted Leber's hereditary optic neuropathy (LHON). Clinical and genetic evaluations revealed the variable severity and age-of-onset in visual impairment in these families. In the affected matrilineal relatives, the loss of central vision is bilateral, the fellow eye becoming affected either simultaneously (45%) or sequentially (55%). The penetrances of vision loss in these… CONTINUE READING