Understanding retinal ciliopathy through Bardet-Biedl syndrome
Reviewed by Zhihang Cheng

This is a review article looking at up-to-date understanding and ongoing research in retinal ciliopathies. Syndromic ciliopathies consist of a group of disorders caused by ciliary dysfunction or abnormal ciliogenesis. These disorders have multiorgan involvement in addition to retinal degeneration underscoring the ubiquitous distribution of primary cilia in different cell types. The authors focus on the example of Barbet-Biedl syndrome to explore the function of primary cilia and how genetic mutations in a large variation of genes can lead to dysfunction and the resultant phenotype.

Retinal ciliopathies through the lens of Bardet-Biedl Syndrome: past, present and future.
Chandra B, Tung ML, Hsu Y, et al.
PROGRESS IN RETINAL AND EYE RESEARCH
2021;18:101035.