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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 affect nucleotide positions 11778, 3460 and 14484, 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.
Signs & symptoms
Clinically, there is an acute onset of visual loss, first in one eye, and then a few weeks later in the other. This eventually evolves to very severe optic atrophy and permanent decrease of visual acuity. In the acute stage lasting a few weeks, the affected eye demonstrates an edematous appearance of the nerve fiber layer especially in the arcuate bundles and enlarged or telangectatic and tortuous peripapillary vessels (microangiopathy). These main features are seen on fundus examination, just before or subsequent to the onset of visual loss. Examination reveals decreased visual acuity, loss of color vision and a cecocentral scotoma on visual field examination.
Diagnosis & management
The diagnosis is extremely difficult and usually requires a neuro-ophthalmological evaluation and/or blood testing for DNA assessment (that is available only in a few laboratories). Hence the incidence is probably much greater than appreciated. The prognosis is almost always that of continued very severe visual loss. There is no accepted treatment for this disease.
Leber’s hereditary optic neuropathy is sometimes confused with Leber's congenital amaurosis, which is a different disease also first described by Theodore Leber in the 19th century.
Trivia
- LHON 1 has an unusually high prevalence in Western Quebec, Canada, where it is referred to as Frenchman disease
See also
External links
- Carelli V, Ross-Cisneros F, Sadun A: Mitochondrial dysfunction as a cause of optic neuropathies. Prog Retinal & Eye Research. 23:53-89, 2004.
- International Foundation for Optic Nerve Disease
- Leber's Hereditary Optic Neuropathy Home Page
- RNIB
- Vision Support Guide
- OMIM Leber Optic Atrophy entry
Ophthalmology | Genetic disorders | Eponymous diseases | Neurology
"Leber's hereditary optic neuropathy"