Retinal nerve fibre layer thinning and corneal nerve loss in patients with Bardet-Biedl syndrome

• Main Authors: Aziz Belkadi (Author), Gaurav Thareja (Author), Adnan Khan (Author), Nisha Stephan (Author), Shaza Zaghlool (Author), Anna Halama (Author), Ayeda Abdulsalam Ahmed (Author), Yasmin A. Mohamoud (Author), Joel Malek (Author), Karsten Suhre (Author), Rayaz A. Malik (Author)
• Format: Book
• Published: BMC, 2023-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Bardet-Biedl syndrome (BBS) is an autosomal recessive, genetically heterogeneous, pleiotropic disorder caused by variants in genes involved in the function of the primary cilium. We have harnessed genomics to identify BBS and ophthalmic technologies to describe novel features of...