Bardet-Biedl Syndrome: Ocular Genetic Trials

Bardet-Biedl Syndrome is a rare genetic disorder with autosomal recessive inheritance that affects multiple organ systems. It is characterized by retinal dystrophy, obesity, polydactyly, renal anomalies, and cognitive impairment, this syndrome prominently involves ocular manifestations, which constitute one of the major sources of morbidity. In the majority of cases, progressive retinal degeneration begins in childhood or early adulthood, leading to significant vision loss. The molecular pathogenesis of BBS is associated with genetic mutations that disrupt the function of primary cilia. These mutations occur in genes encoding structural or regulatory components of the BBSome complex, which plays a crucial role in fundamental cellular processes such as cytoskeletal organization, protein trafficking, and intracellular signaling. In recent years, ocular genetic studies have expanded the spectrum of known mutations through functional analyses, while animal models have provided deeper insights into the molecular mechanisms underlying retinal pathology. From a therapeutic standpoint, gene replacement strategies have shown promising results at the preclinical level; however, the considerable genetic heterogeneity and the multisystemic nature of the syndrome pose challenges for the clinical translation of these approaches.