Leber Hereditary Optic Neuropathy (LHON)


Leber Hereditary Optic Neuropathy (LHON) is a mitochondrial inherited disorder causing an acute and severe loss of visual acuity in previously healthy persons. In most cases, a primary mitochondrial deoxyribonucleic acid (mtDNA) mutation is present but the pathogenesis of LHON remains unclear and no treatment is available yet.

Keywords: LHON; mitochondria; optic neuropathy; blindness; visual impairment

Figure 1.

Age of onset in the Dutch LHON population is representative for other Western European populations. Peak incidence is in early adulthood. More than 95% of the patients develop symptoms before the age of 50 and very few before the age of 9.

Figure 2.

Example of genetic transmission in a pedigree of a LHON family. All maternal‐related relatives are LHON mtDNA mutation carriers. Note the incomplete penetrance. (Not all family members with the same maternal transmitted mitochondrial DNA mutation will become affected.) Square: male; circle: female; filled circle or square: affected family member.


Further Reading

Carelli V, Ghelli A, Ratta M et al. (1997) Leber’s hereditary Optic neuropathy: biochemical effect of 11778/ND4 and 3460/ND1 mutations and correlation mitochondrial genotype. Neurology 48: 1623–1632.

Carelli V, Ross‐Cisneros FN and Sadun AA (2004) Mitochondrial dysfunction as a cause of optic neuropathies. Progress in Retinal and Eye Research 23: 53–89.

Mackey DA, Oostra RJ, Rosenberg T et al. (1996) Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber heriditary optic neuropathy. American Journal of Genetics 59: 481–485.

Man PY, Griffiths PG, Brown DT et al. (2003) The epidemiology of Leber hereditary optic neuropathy in the North East of England. American Journal of Human Genetics 72: 333–339.

Spruijt L, Kolbach DN, de Coo RF et al. (2006) Influence of mutation type on clinical expression of Leber hereditary optic neuropathy. American Journal of Ophthalmology 141: 676–682.

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How to Cite close
Spruijt, Liesbeth(Jul 2007) Leber Hereditary Optic Neuropathy (LHON). In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0005541]