Medical Science: Recent Advances and Applications Vol. 11

Bardet–Biedl Syndrome (BBS) is a rare multisystem ciliopathy with striking phenotypic and genetic heterogeneity. Ophthalmic manifestations, particularly rod–cone dystrophy resembling retinitis pigmentosa, often provide the earliest diagnostic clue and serve as a gateway to systemic evaluation. Beyond ocular findings, the syndrome encompasses obesity, polydactyly, hypogonadism, renal dysfunction, and developmental or cognitive impairment, necessitating coordinated multidisciplinary care. This chapter presents an atypical paediatric case of BBS with retinitis pigmentosa sine pigmento, central obesity, polydactyly, dental anomalies, and genital hypoplasia, illustrating the spectrum of clinical variability. Recent advances in molecular genetics have expanded the BBS gene spectrum, with the recent discovery of IFT57 further linking intraflagellar transport dysfunction to disease pathogenesis. Current management remains largely supportive, focusing on low-vision rehabilitation and systemic surveillance; however, emerging interventions such as gene augmentation, gene editing, pharmacological agents like setmelanotide, and neuroprotective strategies hold promise for disease modification. By integrating case findings with updated molecular insights, therapeutic advances, and future directions, this chapter highlights the central role of ophthalmologists in early recognition and long-term management of BBS.