Clinical Insights into Bardet-biedl Syndrome and Retinitis Pigmentosa: A Case Report

Abstract

Bardet–Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterized by learning impairments, obesity, post-axial polydactyly, retinal dystrophy, and hypogonadism. Numerous related minor characteristics are crucial for the clinical management of BBS and can aid in the diagnosing process. In 80% of patients, sequencing known disease-causing genes can confirm the diagnosis, which is based on clinical symptoms. BBS genes encode proteins involved in cilia biogenesis and function that localize to the basal body and cilia. Defective cilia resulting from mutations partially explain the pleiotropic effects seen in BBS. We report the case of a 23-year-old patient referred to the nephrology department for progressive bilateral visual acuity loss.