Value Health. 2025 Aug 5:S1098-3015(25)02490-8. doi: 10.1016/j.jval.2025.07.023. Online ahead of print.
ABSTRACT
OBJECTIVES: Little is understood about the lived experiences of individuals affected by inherited optic neuropathies (IONs) in the United Kingdom. The aim of this study was to understand how autosomal dominant optic atrophy (DOA) and Leber hereditary optic neuropathy (LHON), the two more commonly encountered IONs, impact affected individuals and the factors contributing to their vision-related quality of life (VRQoL).
METHODS: Semi-structured qualitative interviews were conducted with 20 individuals with a genetic diagnosis of DOA (10 participants) or LHON (10 participants) and affected by vision loss. Eligible participants were purposively sampled to achieve variation in participant age, sex, duration of visual impairment, and location in the UK. Using inductive thematic analysis, a range of themes and sub-themes were developed.
RESULTS: Participants’ experiences could be broadly summarised across four overarching themes: [1] IONs impacted all aspects of life, most notably psychosocial and emotional wellbeing; [2] participants learned to cope by adapting and adjusting to visual impairment, often on their own, with little external support or resources; [3] participants’ identities as visually-impaired people were determined by how they viewed themselves and others’ reactions to their disability; and [4] good VRQoL was defined as having independence with the support of others.
CONCLUSIONS: Visual impairment due to an ION threatens the independence of affected individuals, leading to psychosocial losses and reduced emotional wellbeing. Despite the challenges they face, people living with an ION describe a “relatively” good VRQoL, often due to the positive impact of social support, enabling them to lead fulfilling lives.
PMID:40774594 | DOI:10.1016/j.jval.2025.07.023