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Article

The Clinical and Mutational Spectrum of Bardet-Biedl Syndrome in Saudi Arabia.

Genes - 11 Jun 2024

Milibari Doaa, Nowilaty Sawsan R, Ba-Abbad Rola

Abstract excerpt

The retinal features of Bardet-Biedl syndrome (BBS) are insufficiently characterized in Arab populations. This retrospective study investigated the retinal features and genotypes of BBS in Saudi patients managed at a single tertiary eye care center. Data analysis of the identified 46 individuals from 31 families included visual acuity (VA), systemic manifestations, multimodal retinal imaging, electroretinography...

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Identifiers

PMID: 38927698
DOI: 10.3390/genes15060762
PMCID: PMC11202873

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