Patient participation in the development of a clinical guideline for inherited retinal dystrophies

Objective: To identify the most relevant self-perceived health problems and unmet needs among adults with inherited retinal dystrophies (IRDs) in order to incorporate patients’ perspective from the initial design of a clinical practice guideline (CPG) for IRDs in Spain.

Research design and methods: A systematic review (SR) and a survey according to the Delphi method were carried out.

Main Outcome Measures: Self-perceived health problems, unmet needs of care and treatment expectations related to IRDs.

Results: From the SR, no information was found regarding unmet health care needs or dissatisfaction with health care services. In the survey, the most significant self-reported health problems were progressive decrease in visual acuity, visual field loss, abnormal sensitivity to light or glare, and night blindness. The main unmet needs were scarcity of disease information, lack of protocols for effective disease management and limited professional empathy. Treatment expectations were focused on the availability of protective and aids devices, easier access to rehabilitative services and psychological support.

Conclusion: Patient involvement in CPG development helps to reduce the gap between the drawbacks of the routine clinical management and real-life needs of patients, especially in the context of rare diseases as IRDs where evidence-based therapies are scarce.