"This is life": An interpretative phenomenological analysis of the lived experience of working-age adults with inherited retinal diseases in Singapore.

Abstract

Background: Inherited retinal diseases (IRDs) are a heterogeneous group of genetic disorders that progressively impair vision, affecting millions globally. Despite advancements in gene therapy, treatment options remain limited. The impact of IRDs on patients' psychological and social well-being, however, remains underexplored, especially in Asia.

Objective: This study investigates the lived experiences of working-age adults in Singapore with IRDs, focusing on how the condition influences their identity, social engagement, and coping mechanisms.

Methods: Following the traditions of Interpretative Phenomenological Analysis (IPA) and informed by the theories of biographical disruption and embodiment, semi-structured interviews were conducted with six adults (aged 21-65 years old) formally diagnosed with IRDs. Participants were recruited through a genetic eye service, and in-depth, one-on-one interviews explored the impact of diagnosis, occupational and social lives, coping strategies, and future outlook. Transcripts were analyzed to identify key experiential themes.

Results: Four major themes emerged: (1) Embodied Experience - Navigating a Shifting Relationship with the Body, (2) The Self in Flux - Redefining Identity and Purpose, (3) Social Negotiations - Visibility, Invisibility, and Stigma, and (4) Coping and Resilience - Strategies for Adapting to Uncertainty. Participants described ongoing negotiations of self-identity, perceived social stigma, and internal struggles with acceptance of their conditions, amidst their faltering visual abilities and blending efforts to adapt to progressive vision loss.

Conclusions: Vision loss profoundly affects individuals' bodies, identities and social engagement. The findings emphasize holistic care that incorporates genetic and psychological counseling, along with public education initiatives to reduce stigma and support individuals in maintaining their independence.