Researchers at the Centre Hospitalier National d’ophtalmologie des Quinze-Vingts, INSERM, Paris, France, and at the Institut de la Vision, Sorbonne Universités, INSERM, CNRS, Paris, France, have reported results on a patient experience study to assess the link between vision impairment, disease severity, and the impact on activities of daily living (ADL) in retinitis pigmentosa (RP) and Choroideremia (CHM). Their data provided a combined conceptual model of RP and CHM disease experience and the researchers commented that testing in larger samples is recommended to further evaluate content validity of their preliminary findings, providing useful research for evaluating new outcome measures for future clinical trials.
According to the researchers, “concept elicitation” is the process of identifying the symptoms experienced and the functions affected as the result of a given disease and how this has an impact on patients’ lives. The study was typically done through semi-structured qualitative interviews with patients. Among the 14 symptoms reported, poor night vision/night blindness, difficulty seeing in bright light, and difficulty seeing in low/dim light were experienced by all participants. Over 50% of participants in either condition reported difficulty adapting from bright to dark and vice versa, poor peripheral vision, poor contrast sensitivity, poor distance vision, and poor visual acuity. Symptoms had a significant impact on activities of daily living. Most commonly impacted were the ability to navigate and the use of digital screens (n = 17/17, 100%) as well as physical functioning and work/school-related activities (n = 16/17, 94.1%). These impacts were often exacerbated by environmental factors, navigation and on emotional well-being. In particular, health-related Quality of Life (HRQoL) impacts associated with emotional wellbeing (n = 13/17, 76.5%). The study showed that patients reported sadness/depression due to their eye condition (n = 6/13, 46.2%), and this concern was followed by annoyance/frustration (n = 4/13, 30.8%), guilt/burden (n = 3/13, 23.1%), anxiety/stress (n = 2/13, 15.4%), fear (n = 2/13, 15.4%), anger (n = 2/13, 15.4%), powerlessness (n = 2/13, 15.4%), and embarrassment/ self-consciousness (n = 2/13, 15.4%). All impacts on emotional well-being were mentioned spontaneously and not specifically probed upon during the interviews.
Figure 1. Conceptual model of RP and CHM symptom and impact concepts
Table 1. Number of RP and CHM patients reporting symptoms to cause or exacerbate impacts
[The research work is licensed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), cited by Rometsch et al., entitled by: “Patient experience in retinitis pigmentosa and Choroideremia- a concept elicitation study in 17 patients based on qualitative interviews”, Orphanet J Rare Dis . 2025 Aug 11;20(1):418. doi: 10.1186/s13023-025-03713-4].
The researchers summarised that the most frequently reported impacts concerned activities of daily living (100%), emotions (90%), reading (81%), driving (71%), chores and cleaning (62%), navigation (52%), sports/ physical activity (52%), and walking into objects (48%). Impacts were reported to be exacerbated by lighting conditions, unfamiliar environments and weather conditions. The patient interviews provided insight into the patient experience of RP and CHM to develop a combined conceptual model of the RP and CHM disease experience. Finally, the researchers commented that, “our findings are suitable to inform recommendations for the development of patient-reported outcome (PRO) and performance outcome (PerfO) measures needed to evaluate novel therapies for both RP and CHM.”