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 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 mark

SUBMITTER: Belkadi A 

PROVIDER: S-EPMC10666305 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature