ArticleFrontiers in cell and developmental biology2026
Clinical heterogeneity associated with Bardet-Biedl syndrome-related genes in presumed non-syndromic inherited retinal disease.
Article in Frontiers in cell and developmental biology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Introduction: Inherited retinal diseases (IRDs) may present as an isolated ocular condition or as part of multisystem disorders, such as Bardet-Biedl syndrome (BBS). Several BBS-related manifestations are age-dependent and variably expressed. Therefore, patients with early or subtle extra-ocular features may be incorrectly diagnosed as having non-syndromic IRD. There are two diagnostic frameworks for BBS: a phenotype-based, Beales-derived approach and a genotype-first approach, as recommended by the InterEuropean Reference Networks (ERNs) criteria. Here, we aimed to conduct comprehensive evaluations of patients with IRD carrying BBS-related variants. Methods: Nineteen patients from nine Jordanian families initially diagnosed with non-syndromic IRD underwent detailed ophthalmic evaluation and molecular testing. Post-genetic testing, participants underwent targeted reverse phenotyping to reveal potentially overlooked syndromic features. Results: Ophthalmic assessment revealed a spectrum ranging from advanced IRDs to phenotypes inclining toward rod-cone, cone-rod, and macular dystrophies. Molecular testing identified potential causative variants in BBS-related genes known to cause both isolated IRD and BBS, namely, Discussion: Wide intra- and inter-familial clinical variability was observed, even among patients with the same variants in
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