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

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

BMC medical genomics 2023 Nov 23

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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. 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. 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. © 2023. The Author(s).

Citation

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. Retinal nerve fibre layer thinning and corneal nerve loss in patients with Bardet-Biedl syndrome. BMC medical genomics. 2023 Nov 23;16(1):301