OBJECTIVES: Leber's Hereditary Optic Neuropathy (LHON) is a rare, genetic disease resulting in progressive and severe central vision loss. Comprehensive studies assessing epidemiology and burden of illness outside of Europe are limited. A targeted literature review (TLR) was conducted to understand the epidemiology and clinical, humanistic, and economic burden of living with LHON, with a focus outside of Europe.

METHODS: A TLR was conducted for full-text articles in Embase and MEDLINE published before May 24, 2024, and which reported on epidemiology and clinical, economic, and humanistic burden of LHON. Findings were supplemented with hand searching in relevant databases. Studies were selected based on geographic location, relevance, timeliness, and quality to conduct a qualitative synthesis.

RESULTS: 22 studies were selected that described the epidemiology and burden of LHON. Five included US participants, but none focused solely on the US. Prevalence estimates from 10 studies across Europe, Asia, and Oceania ranged from 0.19 per 100,000 (Serbia) to 3.69 per 100,000 (Northeast England). Clinical burden (n=5 studies) of vision loss in LHON is high, with most patients (58% to 76%) experiencing severe vision loss (logMAR ≤ 1.0). One study reported significantly increased risks of mortality (RR 1.95) and morbidity due to stroke (RR 2.38), neurologic disorders (RRs 1.75 to 12.89), and alcohol-related disorders (RR 1.41) versus the general population. Humanistic burden (n=7) included reduced vision-related QoL (mean VF-14 ≤ 25.1) and various emotional and psychosocial effects. Economic burden was reported by three studies, including a 2019 estimate of total US costs between $84M and $200M.

CONCLUSIONS: This TLR identified several studies indicating a high burden of LHON across geographies. However, there remains a paucity of US literature. Additional research and collaboration are needed to further characterize LHON epidemiology and burden in the US and support patient access to timely, effective care.