A case of Leber optic atrophy in childhood


  • 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”


Leber hereditary optic neuropathy, childhoodonset disease, mitochondrial inheritance


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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How to Cite

Koleva, M., F. Mehmedova, S. Cherninkova, Каmenarova K., and V. Bojinova. “A Case of Leber Optic Atrophy in Childhood”. Cephalgia, vol. 24, no. 1, Dec. 2022, pp. 42-46, https://glavobolie.org/journal/index.php/ce/article/view/60.