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Retinal nerve fibre layer thinning and corneal nerve loss in patients with Bardet-Biedl syndrome by 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 is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

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## 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 BBS. ## Case presentation A patient with an unclear diagnosis of syndromic type 2 diabetes mellitus, another affected sibling and unaffected siblings and parents were sequenced using DNA extracted from saliva samples. Corneal confocal microscopy (CCM) and retinal spectral domain optical coherence tomography (SD-OCT) were used to identify novel ophthalmic features in these patients. The two affected individuals had a homozygous variant in __C8orf37__ (__p.Trp185\*__). SD-OCT and CCM demonstrated a marked and patchy reduction in the retinal nerve fiber layer thickness and loss of corneal nerve fibers, respectively. ## Conclusion This report highlights the use of ophthalmic imaging to identify novel retinal and corneal abnormalities that extend the phenotype of BBS in a patient with syndromic type 2 diabetes. ## Supplementary Information The online version contains supplementary material availabl

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Author

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

Publisher

Springer Science and Business Media LLC

Published

2023

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)