Leber's hereditary optic neuroretinopathy (LHON) associated with mitochondrial DNA point mutation G11778A in two Croatian families.

@article{MartinKleiner2006LebersHO,
  title={Leber's hereditary optic neuroretinopathy (LHON) associated with mitochondrial DNA point mutation G11778A in two Croatian families.},
  author={Irena Martin-Kleiner and Jelka Gabrilovac and Mario Bradvica and Tomislav Vidovi{\'c} and Branimir Cerovski and Ksenija Fumic and Milivoj Borani{\'c}},
  journal={Collegium antropologicum},
  year={2006},
  volume={30 1},
  pages={
          171-4
        }
}
Leber's hereditary optic neuroretinopathy (LHON) is manifested as a bilateral acute or subacute loss of central vision due to optic atrophy. It is linked to point mutations of mitochondrial DNA, which is inherited maternally. The most common mitochondrial DNA point mutations associated with LHON are G3460A, G11778A and T14484C. These mutations are linked with the defects of subunits of the complex I (NADH-dehydrogenase-ubiquinone reductase) in mitochondria. The G11778A mitochondrial DNA point… CONTINUE READING