OBJECTIVES: LHON is a rare, autosomal dominant, genetic disorder which causes severe vision loss or blindness, with an average onset between 10-30 years. The most common symptoms of LHON are vision loss and reduced visual acuity, often in both eyes. There is currently no cure, although some treatments are able to slow or halt the progression of the disease. This systematic literature review (SLR) was conducted to gather further insight into how QoL is measured in LOHN, and the impacts of LOHN on patients’ QoL.

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

RESULTS: 30 papers were identified from the initial search. Following abstract and full paper review, r9 papers concerning 5 studies were included: 1 study regarding the potential therapy Idebenone and 2 studies regarding lenadogene nolparvovec, a gene therapy.

The papers identified a variety of disease-related QoL burdens, including impacts on daily living, assistance, interpersonal relationships, career/finances, mental health/wellbeing. Management of risk factors that are considered as triggers to disease (smoking/alcohol intake) were also highlighted. Impacts on QoL were not limited to those with sight loss, extending additionally to families and asymptomatic carriers. It was also found that patients who were newly diagnosed, or diagnosed later in life, suffered the greatest QoL burden.

The QoL measures reported were VF-14, visual function questionnaire-25 (VFQ-25), energy levels evaluated via self-reported VAS scale, and depression scores using the Beck Depression Inventory (BDI-I). Each, although established QoL measures, lack specificity to LHON.

CONCLUSIONS: There is limited published literature relating to LHON and QoL, and no QoL measure specifically tailored to LHON. The impact LHON has on QoL reaches across all aspects of daily life, emphasising the importance of developing new therapies in this area.