An Epidemiological Study of LHON Using a Large International Sample of Affected Individuals

Leber's hereditary optic neuropathy (LHON) is the most common inherited mitochondrial disease. It results in acute/subacute, painless, profound loss of central and color vision. The current literature reports males as 4-5 times more likely than females to be affected by LHON, and that symptom onset occurs during late teen/young adult life. As a result, LHON is usually called a "young man's disease." However, this may be a self-fulfilling prophecy, with underdiagnosis of females, older adults and children. We analyzed the epidemiology of LHON using a large international database of people affected by LHON.