| Leber's hereditary optic neuropathy | |
|---|---|
| Other names | Leber hereditary optic atrophy |
 | |
| Leber's hereditary optic neuropathy has a mitochondrial inheritance pattern. | |
| Specialty | Ophthalmology  |
| Frequency | 1:30,000 to 1:50,000 |
Leber's hereditary optic neuropathy (LHON) is a mitochondrially inherited (transmitted from mother to offspring) degeneration of retinal ganglion cells (RGCs) and their axons that leads to an acute or subacute loss of central vision; it predominantly affects young adult males. LHON is transmitted only through the mother, as it is primarily due to mutations in the mitochondrial (not nuclear) genome, and only the egg contributes mitochondria to the embryo. Men cannot pass on the disease to their offspring.[1] LHON is usually due to one of three pathogenic mitochondrial DNA (mtDNA) point mutations. These mutations are at nucleotide positions 11778 G to A, 3460 G to A and 14484 T to C, respectively in the ND4, ND1 and ND6 subunit genes of complex I of the oxidative phosphorylation chain in mitochondria.
- ^ Bandelt HJ, Kong QP, Parson W, Salas A (December 2005). "More evidence for non-maternal inheritance of mitochondrial DNA?". J. Med. Genet. 42 (12): 957–60. doi:10.1136/jmg.2005.033589. PMC 1735965. PMID 15923271.