Leber Hereditary Optic Neuropathy
Kopishinskaya S.V., Svetozarsky S.N., Gustov А.V.
Key words: optic neuropathy; Leber disease; mitochondrial disease; optic nerve atrophy.
2014,
volume 6, issue 2,
page 148.
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Leber optic neuropathy is mitochondrial neurodegenerative disease manifested by progressive visual deterioration due to optic nerve atrophy. It is most frequently manifested in young people aged from 18 to 30, male patients prevailing. The disease is characterized by maternal inheritance, and the inheritance of a feature discontinues in men. In 95% cases Leber hereditary optic neuropathology is due to one of three known mitochondrial DNA mutations, its type being important in relation to the disease prognosis. The disease course has a number of succeeding stages: preclinical, acute and chronic (atrophic). The disease diagnosis is based on the characteristic clinical presentation of sequential impairment of both eyes forming central scotoma, the analysis of family history and detection of specific mutations. The present clinical observation illustrates the difficulties in Leber disease diagnosis.
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Kopishinskaya S.V., Svetozarsky S.N., Gustov А.V. Leber Hereditary Optic Neuropathy.
Sovremennye tehnologii v medicine
2014; 6(2):
148