Bilateral Progressive Visual Loss in an Epileptic, Mentally Retarded Boy

@inproceedings{Guerriero2011BilateralPV,
  title={Bilateral Progressive Visual Loss in an Epileptic, Mentally Retarded Boy},
  author={Silvana Guerriero and Michele Vetrugno and Lorenza Cirac{\`i} and Lucia Artuso and Rosa Dell’Aglio and Vittoria Petruzzella},
  booktitle={Middle East African journal of ophthalmology},
  year={2011}
}
Leber's hereditary optic neuropathy (LHON) is a maternally inherited, monosymptomatic disorder, characterized by severe central vision loss and optic atrophy that most frequently affects young men. The classic LHON phenotype is associated to three mitochondrial DNA mutations, mostly homoplasmic, in the Mt-ND4, Mt-ND6, and Mt-ND1 genes, encoding for complex I subunits of the mitochondrial respiratory chain. Rare cases have been described in the literature in association with variable central… CONTINUE READING