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

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.

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.

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.

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.