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. 2017 Sep;5(9):10.18103/mra.v5i9.1526.
doi: 10.18103/mra.v5i9.1526. Epub 2017 Sep 18.

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

Katie Weihbrecht  1   2   3 , Wesley A Goar  1   2   3 , Thomas Pak  1   3 , Janelle E Garrison  1   3 , Adam P DeLuca  2   3 , Edwin M Stone  2   3 , Todd E Scheetz  2   3 , Val C Sheffield  1   2   3
Affiliations

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

Katie Weihbrecht et al. Med Res Arch. 2017 Sep.

Abstract

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.

Keywords: BBSome; Bardet-Biedl syndrome; Joubert syndrome; Leber Congenital Amaurosis; Senior-Løken syndrome; blindness; ciliopathy; eye; nyctalopia; photoreceptor; retinal degeneration.

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Figures

Figure 1
Figure 1
Right (20/100 best corrected visual acuity (BCVA)) and left (20/80 BCVA) fundus photographs of a 47-year-old male with BBS caused by a homozygous M390R mutation in BBS1 showing the characteristic macular atrophy and peripheral bone spicule pigmentation. This patient has a history of postaxial polydactyly of the lower extremities and first noted visual symptoms at age 14.
Figure 2
Figure 2
Schematic illustration of the rod photoreceptor for wild type mice and BBS mutant mice. The BBSome is involved in protein trafficking along the axoneme. In Bbs8 and Bbs17 mutant mice, proteins are mislocalized. In a wild type mouse, STX3 and STXBP1 are located at the synapse and base of the cilium. Rhodopsin is localized to the discs. In addition, Prominin 1 is located at the base of the outer segment. In BBS mutant mice, STX3 and STXBP1 are found throughout the outer segment. Rhodopsin is found at the inner segment and outer nuclear layer. In addition, Prominin 1 is found throughout the outer segment.
See this image and copyright information in PMC

References

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