Bardet-Biedl Syndrome: A Rare Case From Ophthalmology Perspective

Abstract

Bardet-Biedl syndrome (BBS) is a rare multisystem disease, with autosomal recessive inheritance and genetic heterogeneity characterized by post-axial polydactyl, cone-rods dystrophy, and central obesity. BBS involves many organs in the body with variable complications and the life span of affected individuals. Clinical confirmation of the disorder can be done using a revised criterion that consists of primary or major features and secondary or minor features. Primary features of BBS include hypogonadism, polydactyly, obesity, retinitis pigmentosa, and learning disability. While ataxia, poor coordination, brachydactyly, diabetes mellitus, speech abnormalities, liver fibrosis, hearing loss, spasticity, and cardiovascular anomaly constitute the secondary features. In this study, we report a case of a five-year-old Saudi girl who presented with language delay, delay in milestones, progressive weight gain, excised polydactyly, and retinitis pigmentosa. An integrated medicine approach would substantially improve the quality of life of the affected individuals and their families by enhancing both physical and mental health.