Leber hereditary optic atrophy

Definition:

Leber hereditary optic neuropathy (LHON) is a maternally transmitted inherited genetic disease underlying mutation of mitochondrial DNA (mtDNA). It is primarily an ophthalmological disorder, presenting predominantly in young adult males and characterized by acute or subacute bilateral optic atrophy that results in the loss of central vision. In most of the patients with LHON, visual dysfunction is the only manifestation of the disease. The incidence of LHON in Western Europe is 1/30000-1/50000; at least 1 in 14000 males is affected.

References:

[1]. D C Wallace, et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science. 1988 Dec 9;242(4884):1427-30. [Content Brief]

[2]. Donald R Johns, et al. Treatment of Leber's hereditary optic neuropathy: theory to practice. Semin Ophthalmol. 2002 Mar;17(1):33-8. [Content Brief]

[3]. J Finsterer, et al. Central nervous system manifestations of mitochondrial disorders. Acta Neurol Scand. 2006 Oct;114(4):217-38. [Content Brief]

[4]. K H Smith, et al. Heteroplasmy in Leber's hereditary optic neuropathy. Arch Ophthalmol. 1993 Nov;111(11):1486-90. [Content Brief]

[5]. M D Brown, et al. Leber's hereditary optic neuropathy: a model for mitochondrial neurodegenerative diseases. FASEB J. 1992 Jul;6(10):2791-9. [Content Brief]

[6]. May-Yung Yen, et al. Leber's hereditary optic neuropathy: a multifactorial disease. Prog Retin Eye Res. 2006 Jul;25(4):381-96. [Content Brief]

[7]. Nancy J Newman, et al. From genotype to phenotype in Leber hereditary optic neuropathy: still more questions than answers. J Neuroophthalmol. 2002 Dec;22(4):257-61. [Content Brief]

[8]. P Riordan-Eva, et al. Leber's hereditary optic neuropathy: the clinical relevance of different mitochondrial DNA mutations. J Med Genet. 1995 Feb;32(2):81-7. [Content Brief]

[9]. P Yu-Wai-Man, et al. Inherited mitochondrial optic neuropathies. J Med Genet. 2009 Mar;46(3):145-58. [Content Brief]

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