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Article

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

BMC medical genomics - 23 Nov 2023

Belkadi Aziz, Thareja Gaurav, Khan Adnan, Stephan Nisha, Zaghlool Shaza, Halama Anna, Ahmed Ayeda Abdulsalam, Mohamoud Yasmin A, Malek Joel, Suhre Karsten, Malik Rayaz A

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37996899
DOI: 10.1186/s12920-023-01739-w
PMCID: PMC10666305

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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