DISEASES

Disease-gene associations mined from literature

Human genes for leber hereditary optic neuropathy

Leber hereditary optic neuropathy [DOID:705]

Leber’s hereditary optic neuropathy (LHON) or Leber optic atrophy is a mitochondrially inherited (mother to all offspring) degeneration of retinal ganglion cells (RGCs) and their axons that leads to an acute or subacute loss of central vision; this affects predominantly young adult males. However, LHON is only transmitted 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. 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. Men cannot pass on the disease to their offspring.

Synonyms:  leber hereditary optic neuropathy,  DOID:705,  Leber's hereditary optic neuropathy,  Leber's optic atrophy,  Leber's optic atrophy (disorder) ...