Leber Hereditary Optic Neuropathy – An Overview
Leber hereditary optic neuropathy (LHON) is one of the most common ophthalmological mitochondrial disorders, characterised by optic neuropathies resulting in bilateral central vision loss. A point mutation in mitochondrial DNA, most common being G3460, G11778A and T14484C, results in disruption of the retinal ganglionic cells due to dysregulation of the respiratory chain. The worldwide prevalence since it was first described in 1858 is approximately 1 in 50,000. As it is a mitochondrial disorder, it mainly effects young males in their second or third decade of life with males being 5 times more likely to be afflicted.