OBJECTIVES: Leber's hereditary optic neuropathy (LHON) is a rare genetic disorder which causes retinal ganglion cell degeneration, resulting in severe vision loss or blindness. Patient-reported outcomes (PROs) play a crucial role in assessing the impact of LHON on quality of life (QoL) and understanding patients’ experiences and needs. This research aims to provide an overview of PROs used in LHON research and the insights they offer into the life of affected individuals.

METHODS: On 6^th June, 2023, Embase, Medline Econlit, and EBMR (Cochrane) were searched for unrestricted literature, using standard patient-reported quality of life search strings.

RESULTS: 30 papers were identified in the initial search, with 4 included after abstract and full-text screening.

Research on PROs in LHON has mainly employed standardised questionnaires/surveys to assess vision-specific QoL and psychosocial well-being. These instruments include the 25-Item National Eye Institute Visual Function Questionnaire (NEI-VFQ-25), the Visual Functioning Questionnaire (VFQ-25), and the Vision-related Quality of Life questionnaire (VR-QOL). Studies utilising these tools consistently report significant LHON-related impairments in vision-related functioning and QoL domains, such as general vision, near and distance activities, colour vision, and social functioning. PROs also highlight the psychosocial impact of LHON, including feelings of frustration and depression, and reduced overall life satisfaction.

PROs also provide insights into the adaptive strategies and coping mechanisms employed by people with LHON. Studies exploring patient narratives and qualitative interviews have featured themes of resilience, acceptance, and the importance of support systems in adjusting to life with the disease.

CONCLUSIONS: The integration of PROs into LHON research is important for informing clinical management and identifying areas for intervention. By capturing patients' perspectives and priorities, PROs help to guide reimbursement and treatment decisions. Furthermore, PROs allow emerging therapies and interventions to be evaluated on the basis of patient-centred outcomes, enhancing the development of patient-centred care approaches.