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

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

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...

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Bibliographic Details
Main Authors: Aziz Belkadi, Gaurav Thareja, Adnan Khan, Nisha Stephan, Shaza Zaghlool, Anna Halama, Ayeda Abdulsalam Ahmed, Yasmin A. Mohamoud, Joel Malek, Karsten Suhre, Rayaz A. Malik
Format: Article
Language:English
Published: BMC 2023-11-01
Series:BMC Medical Genomics
Subjects:
Bardet-Biedl Syndrome
Corneal confocal Microscopy
Nerves
Optical coherence tomography
Retina
Online Access:https://doi.org/10.1186/s12920-023-01739-w

Internet

https://doi.org/10.1186/s12920-023-01739-w

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