Epidemiology of Leber’s hereditary optic neuropathy

Leber’s hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease which affects the optic nerve. LHON is among the most frequent hereditary neuropathies caused by point mutations in mitochondrial DNA and subsequent mitochondrial dysfunction. The main clinical manifestation is painless central vision loss affecting both eyes consequently or simultaneously. The condition affects predominantly young male individuals. LHON is the first clinically described mitochondrial disease, mentioned as the most frequent in some publications. The study of LHON epidemiology is difficult due to its diverse and constantly evolving molecular genetic characteristics. Several cohort studies have assessed individuals from different age groups and described diverse factors causing LHON as well as its molecular genetic specifics. This publication aims to analyze available epidemiological data on Leber’s hereditary optic neuropathy and to provide insights into LHON prevalence in Bulgaria. For more information click here.