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Klin Monbl Augenheilkd 2020; 237(04): 519-520
DOI: 10.1055/a-1068-9073
DOI: 10.1055/a-1068-9073
Der interessante Fall
The Slowly Progressive, Bilaterally Simultaneous Variety of Leber Hereditary Optic Neuropathy
Die langsam fortschreitende, beidseitig gleichzeitige Art der Leberʼschen hereditären OptikusneuropathieWeitere Informationen
Publikationsverlauf
received 25. September 2019
accepted 18. November 2019
Publikationsdatum:
27. März 2020 (online)

Background
Leber hereditary optic neuropathy (LHON) is one of the most common inherited optic neuropathies causing bilateral central vision loss. The disorder results from point mutations in mitochondrial DNA (mtDNA). The primary cell type that is lost is the retinal ganglion cell. The clinical phenotype is highly variable.
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References
- 1 Bird A, McEachern D. Leberʼs hereditary optic neuropathy in a Canadian family. Can Med Assoc J 1949; 61: 376-383
- 2 van Senus AHC. Leberʼs disease in the Netherlands. Doc Ophthalmol 1963; 17: 1-163
- 3 Newman NJ. Hereditary optic neuropathies: from the mitochondria to the optic nerve. Am J Ophthalmol 2005; 140: 517-523
- 4 Nikoskelainen EK, Huoponen K, Juvonen V. et al. Ophthalmologic findings in Leber hereditary optic neuropathy with special reference to mtDNA mutation. Ophthalmology 1996; 103: 504-514
- 5 Sadun AA, Morgia CL, Carelli V. Leberʼs Hereditary Optic Neuropathy. Curr Treat Options Neurol 2011; 13: 109-117
- 6 La Morgia C, Carbonelli M, Barboni P. et al. Medical management of hereditary optic neuropathies. Front Neurol 2014; 5: 141
- 7 Hung HL, Kao LY, Huang CC. Clinical features of Leberʼs hereditary optic neuropathy with the 11778 mitochondrial DNA mutation in Taiwanese patients. Chang Gung Med J 2003; 26: 41-47
- 8 Riordan-Eva P, Sanders MD, Govan GG. The clinical features of Leberʼs hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation. Brain 1995; 118: 319-337
- 9 Smith JL, Tse DT, Byrne SF. et al. Optic nerve sheath distension in Leberʼs optic neuropathy and the significance of the “Wallace mutation”. J Clin Neuroophthalmol 1990; 10: 231-238