Abstract

Leber hereditary optic neuropathy (LHON, OMIM, 535000) is a mitochondrial genetic disorder characterized by bilateral, subacute, painless, and irreversible vision loss, most commonly in previously healthy young men. The severe decrease in vision is characterized by a large central or ceco-central scotoma in the visual field. The worldwide prevalence of LHON is estimated to be between 1:30,000 and 1:50,000. This prevalence varies in different populations and in most populations is unknown [1-5]. The reported prevalence in Finland is 1:50,000 [3], while in northeast England, the preva-lence is 1:30,000 [1], and in a Dutch population 1:39,000 [2]. It is felt to be rare in Chinese populations [5]. The prevalence of LHON in Chile is not known. The exact pathogenesis of LHON has not yet been fully resolved. Three primary mDNA point mutations, m.3460G>A