OBJECTIVES: Leber hereditary optic neuropathy (LHON) represents the most prevalent mitochondrial rare disease, manifesting as dyschromatopsia and progressive central vision loss. The objective of this study was to quantify the direct non-medical and indirect costs incurred by LHON patients and their informal caregivers in Czechia and Slovakia, and to assess their quality of life.

METHODS: The study cohort comprised 27 adults and children with LHON. To ascertain the socioeconomic burden, separate questionnaires were devised for adults, children and parents. Indirect costs (productivity loss) were calculated as absenteeism and presenteeism according to the WHO’s Heath and Work Performance Questionnaire employing human capital approach. To assess quality of life, National Eye Institute 25-item Visual Function Questionnaire (VFQ-25, version 2000) for adults and Paediatric Eye questionnaire (PedEyeQ, version 2019) for children and their parents were used.

RESULTS: The estimate of the productivity loss due to LHON, comprising relative absenteeism and presenteeism, was found to be EUR 9,840 per adult patient/year and EUR 6,298 per parent/year. The mean cost of informal care was estimated at EUR 4,502 (SD 4,772; n=6) per person/year. The mean VFQ-25 score for adult LHON patients was 43.47 (SD 15.86). Regarding the PedEyeQ, four domains were evaluated independently as follows: the functional vision domain was 37.5 (SD 19.36); the social domain was 61.25 (SD 13.15); the frustration/worry domain was 52.5 (SD 19.36) and the impact on the parent and family domain was 62.5 (SD 23.98).

CONCLUSIONS: The study indicates that LHON patients and their families experience a considerable socioeconomic burden due to this rare disease. Prompt and appropriate access to diagnosis, treatment, and reimbursement, in conjunction with psychological counselling and support services, can assist patients and their families in adapting to and managing the challenging aspects of vision loss and living with LHON.