A mitochondrial disease characterized by the loss of central vision and blindness due to the degeneration of the optic nerve and the papilomacular bundle
Leber hereditary optic neuropathy is a type of mitochondrial disease. A mitochondrial disease is often caused by a mutation in the gene located on the mitochondrial DNA. Mutation involving MT-ND1, MT-ND4, or MT-ND6 gene is the common genetic cause of this disorder. These genes are involved in the conversion of energy from food via the process, oxidative phosphorylation of cellular respiration.
Leber hereditary optic neuropathy is inherited in a mitochondrial pattern. This means that the individual with this condition inherited the disorder from their carrier mother. This form of inheritance is referred to as maternal inheritance. This is because the egg cell is the source of the mitochondrial DNA.
Leber hereditary optic neuropathy is characterized by the following symptoms: blurring of vision particularly at the central visual field, loss of sharpness of vision, and the development of optic atrophy. These symptoms may develop during young adulthood and most cases lead to a loss of vision before reaching the age of 50. These symptoms manifest more commonly in males than in females.