Bardet-Biedl Syndrome: A Comprehensive Review of an Autosomal Recessive Ciliopathy

Abstract

Bardet-Biedl Syndrome (BBS) is a rare, genetically heterogeneous, and autosomal recessive ciliopathy characterized by a complex clinical phenotype. This article provides a comprehensive review of BBS, exploring its genetic underpinnings, clinical manifestations, molecular mechanisms, and emerging therapeutic strategies. BBS is associated with primary ciliary dysfunction, leading to a spectrum of clinical features, including obesity, retinal degeneration, renal abnormalities, polydactyly, and cognitive impairments. Understanding the intricate molecular pathways involved in BBS pathogenesis, such as the role of the BBSome and the ciliary transition zone, is crucial for developing targeted treatments. This review also discusses recent advances in the field, including the potential application of gene therapy and small molecule interventions. The aim of this article is to consolidate current knowledge on BBS, shedding light on the complexities of this rare genetic disorder and the potential avenues for future research and therapeutic development.