"Adrift From the World": Exploring the Lived Experiences of Individuals Affected by an Inherited Optic Neuropathy in the United Kingdom-A Qualitative Study.

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, the 2 more commonly encountered IONs, impact affected individuals and the factors contributing to their vision-related quality of life (VRQoL).

Methods: Semistructured qualitative interviews were conducted with 20 individuals with a genetic diagnosis of DOA (10 participants) or Leber hereditary optic neuropathy (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 United Kingdom. Using inductive thematic analysis, a range of themes and subthemes were developed.

Results: Participants' experiences could be broadly summarized across 4 overarching themes: (1) IONs affected all aspects of life, most notably psychosocial and emotional well-being; (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 well-being. Despite the challenges they face, people living with an ION describe a "relatively" good VRQoL, often because of the positive impact of social support, enabling them to lead fulfilling lives.