Objective:

To understand how autosomal dominant optic atrophy (DOA) and Leber hereditary optic neuropathy (LHON) impact on quality of life (QoL) for individuals in the United Kingdom (UK).

Background:

DOA and LHON, the two more commonly encountered inherited optic neuropathies (IONs), are important causes of visual impairment and reduced QoL, particularly in young people. Little is understood about the experiences of affected individuals and the factors contributing to their QoL. 

Design/Methods:

Semi-structured qualitative interviews were conducted with 20 individuals residing in the UK 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 and in-depth coding, a range of themes and sub-themes were developed.

Results:

Participants’ experiences could be broadly summarised across four overarching themes: [1] IONs impacted on all aspects of QoL, most notably the psychosocial and emotional wellbeing of participants; [2] participants learned to cope by adapting and adjusting to visual impairment, often on their own, with little external support or resources after diagnosis; [3] participants’ identities as visually-impaired people were determined by how they viewed themselves and others’ reactions to their disability; and [4] good QoL was defined as having independence with the support of others.

Conclusions:

IONs have a significant impact on QoL. Visual impairment due to an ION threatens the independence of affected individuals in all aspects of their lives, leading to psychosocial losses and reduced emotional wellbeing. Despite the challenges they face, including lack of coordinated care and support after diagnosis, people living with an ION in the UK report a “relatively” good QoL, often due to the positive impact of social supports allowing them to lead fulfilling lives.