OBJECTIVES: Leber’s hereditary optic neuropathy (LHON) is a rare, maternally inherited, mitochondrial disease resulting in sudden, progressive central vision loss due to optic neuropathy. The condition affects numerous aspects of Health-Related Quality of Life (HRQL). Treatments seek to reduce, halt or reverse the loss of visual function. Quality of life weights (utilities) can be used to assess the net benefit of treatment. This study was designed to estimate patient utilities associated with varying levels of visual acuity in LHON.

METHODS: Previous research has combined secondary analysis of trial data, in-depth qualitative data and expert opinion to develop vignettes of LHON states describing the wider impact of vision loss on HRQL. The eight vignettes ranged from mild vision loss (LogMAR<0.3) through to light perception (LogMAR≥4). Members of the UK and Republic of Ireland general public rated all vignettes using Health Utilities Index- 3 (HUI-3) and EQ-5D in an online survey (N=360) and in time trade off interviews (n=120).

RESULTS: The data revealed a large decline in utilities with decreasing visual function. Mild vision loss (LogMAR<0.3) was rated as 0.84 (HUI-3), 0.79 (EQ-5D) and 0.88 (TTO). Light perception (LogMAR≥4) was rated as 0.18 (HUI-3), 0.34 (EQ-5D), and 0.36 (TTO). Data will be presented for the UK and Ireland separately and combined. Large declines in HRQL were seen for states that are off chart (LogMAR≥1.6).

CONCLUSIONS: The results suggest that the HUI-3 is more sensitive to the impact of vision loss on HRQL compared to the EQ-5D and time trade off method, which reflects its measurement system. This study describes utilities for eight health states describing different levels of vision loss in LHON patients. The data suggest that early prevention of decline in vision loss through therapeutic intervention could lead to substantial net gains in HRQL.