4.2 Article

The Impact of Leber Hereditary Optic Neuropathy on the Quality of Life of Patients and Their Relatives: A Qualitative Study

Journal

JOURNAL OF NEURO-OPHTHALMOLOGY
Volume 42, Issue 3, Pages 316-322

Publisher

LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/WNO.0000000000001564

Keywords

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Funding

  1. Cambridge-Rutherford Memorial Scholarship - Royal Society Te Aparangi-Rutherford Foundation
  2. Cambridge Commonwealth, European and International Trust
  3. Aotearoa New Zealand Fellows Research Entry Scholarship - Royal Australasian College of Physicians (RACP)
  4. United Kingdom National Institutes of Health Research (NIHR) [NIHR301696]
  5. United Kingdom Medical Research Council (MRC) [G1002570]
  6. Fight for Sight (United Kingdom)
  7. Isaac Newton Trust (United Kingdom)
  8. Moorfields Eye Charity [GR001376]
  9. Addenbrooke's Charitable Trust
  10. National Eye Research Centre (United Kingdom)
  11. International Foundation for Optic Nerve Disease (IFOND)
  12. NIHR as part of the Rare Diseases Translational Research Collaboration
  13. NIHR Cambridge Biomedical Research Centre [BRC-1215-20014]
  14. NIHR Biomedical Research Centre based at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology
  15. National Institutes of Health Research (NIHR) [NIHR301696] Funding Source: National Institutes of Health Research (NIHR)

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Leber hereditary optic neuropathy (LHON) has a profound impact on the lives of patients and their relatives, extending beyond vision-related limitations. Patients hope for therapy that can restore autonomy and improve their quality of life, while alleviating the burden on their relatives. Addressing the psychosocial impact of LHON and helping patients and their relatives adapt and cope with vision loss are crucial.
Background: Leber hereditary optic neuropathy (LHON) is an inherited mitochondrial disease characterized by severe bilateral vision loss and chronic visual impairment. The objective of this study was to comprehensively explore the impact of LHON on the lives of patients and their relatives at the time of diagnosis and now. Methods: Qualitative study design with 8 focus group interviews conducted in France, Germany, the United Kingdom, and the United States, involving 17 individuals with m.11778G>A mutation and their relatives. Separate focus groups for patients and their relatives were facilitated by a moderator in French, German, or English. Qualitative analysis of interviews using a pre-defined analytical framework. Results: Participants reported feeling devastated by the diagnosis of LHON after a lengthy and worrisome diagnostic journey. Patients were frustrated by the loss of autonomy, which also affected their relatives. Participants described challenges across several domains: physical capabilities, emotional well-being, interpersonal relationships, work and studies, finances, and recreational activities. Access to disability allowances, vision aids, and funded or subsided idebenone varied by country, resulting in unequal financial impact. Patients are hopeful for therapy that would restore autonomy and improve their ability to enjoy a fulfilling life, while alleviating the demands placed on their relatives. Conclusions: The impact of LHON extends beyond vision-related activity limitations. Addressing the psychosocial impact of LHON and helping patients and their relatives adapt and cope with vision loss are vital. As part of this, an accurate and timely diagnosis is important to enable early intervention. Further investigation of specific unmet needs is required.

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