Случай на Леберова оптична атрофия в детска възраст

M. Koleva; F. Mehmedova; S. Cherninkova; K. Каmenarova; V. Bojinova

Authors

M. Koleva UHATNP "St.Naum"; Medical university – Sofia
F. Mehmedova SOBAL „D-r Taskov” – Тargovishte
S. Cherninkova Medical university – Sofia
K. Каmenarova Molecular Medicine Center – Sofia
V. Bojinova UHATNP „St. Naum”

Keywords:

Leber hereditary optic neuropathy, childhoodonset disease, mitochondrial inheritance

Abstract

Leber's hereditary optic neuropathy (LHON) is a rare, mitochondrial neurodegenerative disease affecting the optic nerve with an incidence of about 1:45,000 in the European population. In about 90%, the disease is caused by three most common point mutations in mitochondrial DNA - (m.11778G.A/MTND4, m.3460G.A/MT-ND1, m.14484T.C/MTND6).
It is characterized by a painless loss of central vision – sequentially or simultaneously in both eyes, with different speed of progression of the clinical picture. Cases of onset have been described from 2 to 80 years of age, with the peak of involvement occurring in the second and third decade of life, with a predominant male gender involvement (80-90%). According to data from several conducted meta-analyses, the frequency of Leber's atrophy in childhood is about 15-20%.

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