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Aude ROBOREL de CLIMENS, Andrea PISCOPO, Catherine Brun-Strang, Ronald BUGGAGE, Carla Dias Barbosa, Béatrice Tugaut; Understanding the impact of Stargardt disease on patients’ lives: Insights from patients and their parents based on qualitative research. Invest. Ophthalmol. Vis. Sci. 2017;58(8):1356. doi: https://doi.org/.
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© ARVO (1962-2015); The Authors (2016-present)
Although rare, Stargardt disease (SD), caused by mutations in the ABCA4 gene, is the most common hereditary macular dystrophy. SD typically affects children and young adults and results in blindness due to the loss of central visual acuity. Limited information exists describing the impact of SD on patients’ quality of life. The objective of this qualitative research was to better understand how SD affects patients’ daily lives.
Specific interview guides were developed from a literature review and clinical expert interviews. Between November 2015 and August 2016, face-to-face interviews were conducted with US and French SD patients confirmed by a documented ABCA4 mutation, and parents of the SD children (<18 years). Trained interviewers asked study participants to share their experience of the disease, disease impacts on daily life, if and how this evolved since their diagnosis. An in-depth qualitative analysis of interview transcripts was performed using the Atlas.TI software. A comprehensive disease impact model was developed to reflect all concepts reported by SD patients and parents. The frequency of all concepts was also calculated by age groups.
Interviews were conducted with 21 SD patients and 7 parents. Patients’ mean age was 33 years and mean age at diagnosis was 27 years. The mean visual acuity of interviewed patients was 20/100 (range 20/20-20/600). The three most commonly reported ocular symptoms were photosensitivity (48%), central vision decline (43%), and blurry vision (38%). Other non-ocular symptoms consisted in fatigue (71%) and headaches (36%). The 3 main impacted activities were driving (90%), reading (86%) and playing sports (67%). SD patients were also impacted in their social and family life, as well as psychologically and – for some of them - cognitively. Many patients reported difficulties discussing their disease with friends and relatives (81%).
These interviews provided unique information on the daily life impact of SD from patient and parent perspectives. Beyond the standard clinical parameters, this research highlights relevant domains for SD patients that can help inform clinical work and could be considered as patient reported outcome when investigating the efficacy of novel treatments.
This is an abstract that was submitted for the 2017 ARVO Annual Meeting, held in Baltimore, MD, May 7-11, 2017.
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