Review
Open access
Oct 2026
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 caregiv...
Tasha Miller, A. Gao, Ivan Quan et al.
· Ophthalmic Genetics · 0 citations