Abbreviations:
BBS: Bardet Biedl Syndrome
ACE: Angiotensin Converting EnzymeAbstractBardet-Biedl syndrome (BBS) is a pleiotropic genetic disorder characterized by congenital and late onset defects. It is associated with retinal dystrophy, obesity, polydactyly, hypogonadism and renal dysfunction. Proper management and regular health visits are necessary to avoid complications. We present a patient with retinal dystrophy, obesity and new onset hypertension.Key words : Bardet-Biedl syndrome, congenital, adolescence, obesity, retinal dystrophy, hypertension.IntroductionBardet Biedl Syndrome (BBS) is a pleiotropic genetic disorder with an autosomal recessive mode of inheritance. Laurence and Moon, two ophthalmologists, first reported it in 1866. BBS occurs because of a defect in BBS genes that code for many ciliary-related proteins. Therefore, it is classified as a ciliopathic disorder that arises due to ciliary dysgenesis and dysfunction [1]. To this date, 20 genes have been identified and all of them disrupt ciliary function. The prevalence of BBS varies from 1:160,000 in Northern European populations to 1:13,500 and 1:17,500 in Kuwait and Newfoundland respectively [2]. Genetic testing confirms the diagnosis in most cases. However, diagnosis is primarily clinical [3].
According to the Bardet Biedl Syndrome (BBS) modified diagnostic criteria proposed by Beales et al, our patient met 5 of 6 primary clinical features (rod-cone dystrophy, polydactyly, obesity, learning difficulties, hypogonadism). Differential diagnosis of BBS includes Laurence-Moon syndrome, Alström Syndrome and Prader-Wili Syndrome. Laurence-Moon syndrome exhibits spastic paraparesis and distal muscle weakness whereas polydactyly is seen in BBS.