Leber's Hereditary Optic Neuropathy
LHON is the most common inherited mitochondrial (mt) DNA disorder.1
Over 90% of LHON cases are a result of pathogenic point mutations at mtDNA positions G11778A, G3460A or T14484C, which code for subunits of the mitochondrial respiratory chain complex I.1
Overall, approximately one in five patients will remain within the visual acuity (VA) criteria for legal blindness.1
Prevalence of LHON is not well known but it is estimated at between 1 in 15,000 – 1 in 50,000 people worldwide.1 The overall male to female ratio among patients with LHON averages around 4:1, but this can vary depending on the primary mutation.1
Adult-onset LHON (15–35 years of age) usually presents as painless, subacute central vision loss in one eye, followed by involvement of the second eye within 1 year in 97% of those affected. In most patients, vision loss is devastating in terms of the impact on their quality of life. Vision loss is permanent.1
- Carelli V et al. European Ophthalmic Review. 2019;13(Suppl 2). https://www.touchophthalmology.com/lebers-hereditary-optic-neuropathy-a-global-perspective/.