Leber's hereditary optic neuropathy

Leber's hereditary optic neuropathy is a mitochondrially inherited degeneration of retinal ganglion cells that causes vision loss, primarily affecting adult males with acute or subacute central vision decline. Its inheritance is maternal only, since only the egg contributes mitochondria to the embryo, so fathers cannot transmit the disease. Three primary mitochondrial DNA mutations, at positions 11778 G>A, 3460 G>A and 14484 T>C, cause most cases, all affecting genes in the oxidative phosphorylation chain. The condition was first documented in 1871 by German ophthalmologist Theodor Leber and was later determined to be mitochondrial in origin rather than X-linked, with the causative mutations identified between 1988 and 1992.