Living with Stargardt disease: insights from patients and their parents

Abstract

Background: Stargardt disease (STGD), a rare, inherited macular degeneration most commonly affecting children and young adults, is a rapidly progressive disease leading to severe central vision loss. This research aimed to develop a conceptual disease model describing STGD symptoms and their impact on patients' lives.Material and Methods: Qualitative interviews were conducted with patients (juvenile and adult) and parents of children and adolescents with STGD. Interviewed subjects were enrolled through ophthalmologists from specialized eye centers in the USA and in France. Trained interviewers used semi-structured techniques to elicit concepts relevant to patients and their parents. Thematic analysis of interview transcripts led to the identification of concepts which were organized to generate a disease model.Results: A total of 21 patients (12 in the US; 9 in France) - 14 adults, 7 juveniles - and 7 parents were interviewed. The most cited ocular symptoms were photosensitivity and central vision decline. Interviewees reported limitations on Physical (e.g. difficulty with sports/physical activities), Mental (e.g. frustration and worry, reduced ability to concentrate), Social (e.g. issue with facial recognition and difficulty discussing disease) and Role (e.g. impact on driving and reading, difficulties at school/work) functioning. These impacts were, when possible, mitigated by coping strategies and support (e.g. using electronic devices, setting up routines or accepting the disease).Conclusions: This research provides an overview of symptoms experienced by patients with STGD and highlights the dramatic impact these have on patients' lives, allowing the identification of concepts of importance when evaluating new therapeutic options for STGD.

Keywords: Stargardt disease; health-related quality of life; interviews; macular dystrophy; qualitative research.