Managing Ocular Abnormalities in Bardet-Biedl Syndrome

Bardet-Biedl syndrome and Laurence-Moon syndrome are rare autosomal recessive disorders that share a similar clinical phenotype. These syndromes are characterized by progressive features including cone-rod retinal dystrophy obesity and hypogonadism in males. Additional clinical manifestations can include learning disabilities renal abnormalities and polydactyly. Despite their similarities Bardet-Biedl syndrome and Laurence-Moon syndrome are distinguished by certain clinical features. This book describes the management of the ocular manifestations of Bardet-Biedl syndrome through new evidence-based therapies.The current treatment options are not curative; they may help slow progression and preserve vision. The combination of citicoline goji berry coenzyme Q10 and lutein represents a promising approach for the management of retinal degeneration in BBS patients though further clinical trials are needed to confirm their efficacy.