Patient- and caregiver-reported outcomes in Bardet-Biedl syndrome: a scoping review.

INTRODUCTION

Bardet-Biedl syndrome (BBS) is a multisystem ciliopathy characterized by progressive retinal degeneration alongside metabolic, renal, endocrine, and neurodevelopmental manifestations, resulting in profound quality of life (QoL) impairment. In the absence of disease-modifying therapies, patient- and caregiver-reported outcomes (ROs) are essential for capturing disease burden and informing care and future interventions.

METHODS

A systematic search was conducted on MEDLINE, Embase, PsycINFO, CINAHL, Web of Science, and the Cochrane Library from inception to 1 September 2025, to identify studies on patient- or caregiver-ROs in BBS. Eligible studies used validated instruments assessing symptoms, functioning, or health-related QoL.

RESULTS

Nine studies (513 participants, mean age 13.8 years, 43.7% female) met inclusion criteria, including seven quantitative and two used qualitative studies. Across studies, individuals with BBS reported impairments in physical functioning, emotional well-being, social participation, and adaptive functioning. Vision loss emerged as a major contributor to reduced QoL; however, no study incorporated vision-specific RO measures. Qualitative analyses revealed pervasive emotional distress, loss of autonomy, and functional dependence.

DISCUSSION: The current RO literature in BBS remains limited and heterogeneous, highlighting the need for standardized, developmentally appropriate assessment tools to more accurately capture patient perspectives. Integration of vision-specific ROs and multidisciplinary approaches are essential to meaningfully improve QoL in this population.