OBJECTIVES: Leber’s Hereditary Optic Neuropathy (LHON) is a rare, maternally inherited mitochondrial disease, causing central vision loss due to optic neuropathy It typically emerges in young adulthood and can be very difficult for people to adjust to, which anecdotally leads to a substantial impact on the wider family. This study was designed to describe the burden for informal carers and family members using qualitative and quantitative methods.

METHODS: In-depth interviews were conducted with informal carers and family members (aged 18+) of patients diagnosed with LHON from the UK. Interviews explored how daily activities were affected as well as physical, social, emotional, work, educational and financial impacts. Alongside the interviews, three measures were administered to quantify HRQL and burden for family members: EQ-5D-5L, CarerQol-7D, Work Productivity and Activity Impairment Questionnaire (WPAI).

RESULTS: Nine informal carers and family members participated in the study. Participants had a range of roles (parent, N=5; partner/spouse, N=3; sibling, N=1). Qualitative findings revealed substantial burden for many carers and family members. The most prominent impacts were emotional (e.g., guilt, devastation), including many participants who described the specific emotional impact of LHON being an inherited disease (8/9 participants were women). Impacts to daily life, social life and relationships, work, and finances were also described. Standardised measures identified little impact on HRQL (EQ-5D-5L =0.89), but some carer related burden (CarerQol-7D =78.4). The WPAI revealed an overall work impairment of 15% and activity impairment of 37%.

CONCLUSIONS: Qualitative interviews with carers and family members gave participants the opportunity to describe the impact of LHON on their lives. However, the burden described in the qualitative data was incongruent with the quantitative measures, particularly the EQ-5D-5L. This demonstrates the value of conducting mixed-methods research to understand the impact of disease and the importance of selecting measures which capture population-relevant concepts.