Keeping an Eye on Bardet-Biedl Syndrome: A Comprehensive Review of the Role of Bardet-Biedl Syndrome Genes in the Eye

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Katie Weihbrecht Wesley A. Goar Thomas Pak Janelle E. Garrison Adam P. DeLuca Edwin M. Stone Todd E. Scheetz Val C. Sheffield



Upwards of 90% of individuals with Bardet-Biedl syndrome (BBS) display rod-cone dystrophy with early macular involvement. BBS is an autosomal recessive, genetically heterogeneous, pleiotropic ciliopathy for which 21 causative genes have been discovered to date. In addition to retinal degeneration, the cardinal features of BBS include obesity, cognitive impairment, renal anomalies, polydactyly, and hypogonadism. Here, we review the genes, proteins, and protein complexes involved in BBS and the BBS model organisms available for the study of retinal degeneration. We include comprehensive lists for all known BBS genes, their known phenotypes, and the model organisms available. We also review the molecular mechanisms believed to lead to retinal degeneration. We provide an overview of the mode of inheritance and describe the relationships between BBS genes and Joubert syndrome, Leber Congenital Amaurosis, Senior-Løken syndrome, and non-syndromic retinitis pigmentosa. Finally, we propose ways that new advances in technology will allow us to better understand the role of different BBS genes in retinal formation and function.

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WEIHBRECHT, Katie et al. Keeping an Eye on Bardet-Biedl Syndrome: A Comprehensive Review of the Role of Bardet-Biedl Syndrome Genes in the Eye. Medical Research Archives, [S.l.], v. 5, n. Issue 9, sep. 2017. ISSN 2375-1924. Available at: <>. Date accessed: 27 may 2024.
Bardet-Biedl syndrome, eye, retinal degeneration, ciliopathy, blindness, BBSome, photoreceptor, nyctalopia, Joubert syndrome, Leber Congenital Amaurosis, Senior-Løken syndrome
Review Articles


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