OBJECTIVES: Leber Hereditary Optic Neuropathy (LHON) is a rare, inherited mitochondrial disorder that leads to vision loss. The economic impact of LHON is not well-characterized. This review aimed to comprehensively explore the economic burden of LHON, including healthcare resource utilization, costs, and findings from economic models.

METHODS: A systematic literature review (SLR) was performed in accordance with PRISMA guidelines to identify studies reporting on the economic burden in LHON. Medline, Embase, and Econlit (inception through February 2022), key conference proceedings (2019-2022), and health technology assessment submissions were searched with no restrictions on geography, interventions, or comparator. Included studies were limited to those published in English.

RESULTS: Among 269 records identified in the SLR, five publications from four original studies met the inclusion criteria. There were two studies from North America (US/Canada), one from the UK, and one from Finland. No economic models were identified. The estimated total overall costs of LHON in Canada and the US in 2019 were $10-42M (CAD) and $84-200 million (USD), respectively. Total costs included those associated with loss of wellbeing, productivity losses, informal care, deadweight losses, health system (primary and secondary care, diagnostic tests, pharmaceuticals, vitamins and supplements, and medical research), and other costs. Loss of wellbeing accounted for the largest share of total costs, ranging from $6.43 to $26.29M (CAD) in Canada and $50.59 to $120.26M (USD) in the US. In the UK, limited HCRU data was identified and included the median cost per genetic diagnostic test: £225 (range: £95–950).

CONCLUSIONS: A synthesis of the limited available data reports the economic burden of LHON to be substantial, particularly in Canada and the US. This SLR revealed various gaps in illustrating the direct and indirect costs of LHON. More research is needed to better understand the true economic and humanistic burden of LHON.