Clinical heterogeneity associated with Bardet–Biedl syndrome-related genes in presumed non-syndromic inherited retinal disease (opens in new tab)

IntroductionInherited 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 b...