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

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

doi:10.18103/mra.v5i9.1526

Journal article

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

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

Medical research archives, Vol.5(9), 1526

09/2017

DOI: 10.18103/mra.v5i9.1526

PMCID: PMC5814251

PMID: 29457131

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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.

Blindness

eye

Leber Congenital Amaurosis

retinal degeneration

Joubert syndrome

photoreceptor

Bardet-Biedl syndrome

nyctalopia

Senior-Løken syndrome

BBSome

ciliopathy

Details

Title: Subtitle: Keeping an Eye on Bardet-Biedl Syndrome: A Comprehensive Review of the Role of Bardet-Biedl Syndrome Genes in the Eye
Creators: Katie Weihbrecht - Stephen A. Wynn Institute for Vision Research, University of Iowa; Iowa City, IA 52242, USA
Wesley A Goar - Stephen A. Wynn Institute for Vision Research, University of Iowa; Iowa City, IA 52242, USA
Thomas Pak - Stephen A. Wynn Institute for Vision Research, University of Iowa; Iowa City, IA 52242, USA
Janelle E Garrison - Stephen A. Wynn Institute for Vision Research, University of Iowa; Iowa City, IA 52242, USA
Adam P DeLuca - Stephen A. Wynn Institute for Vision Research, University of Iowa; Iowa City, IA 52242, USA
Edwin M Stone - Stephen A. Wynn Institute for Vision Research, University of Iowa; Iowa City, IA 52242, USA
Todd E Scheetz - Stephen A. Wynn Institute for Vision Research, University of Iowa; Iowa City, IA 52242, USA
Val C Sheffield - Stephen A. Wynn Institute for Vision Research, University of Iowa; Iowa City, IA 52242, USA
Resource Type: Journal article
Publication Details: Medical research archives, Vol.5(9), 1526
DOI: 10.18103/mra.v5i9.1526
PMID: 29457131
PMCID: PMC5814251
NLM abbreviation: Med Res Arch
ISSN: 2375-1916
eISSN: 2375-1924
Language: English
Date published: 09/2017
Academic Unit: Roy J. Carver Department of Biomedical Engineering; Electrical and Computer Engineering; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Pharmaceutical Sciences and Experimental Therapeutics; Medical Genetics and Genomics; Center for Bioinformatics and Computational Biology; Ophthalmology and Visual Sciences
Record Identifier: 9983980395402771

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