Purpose: To determine whether retinal dysfunction in obligate carriers of the Bardet-Biedl
syndrome (BBS) could be observed in local electroretinographic responses obtained with …

Purpose.: Bardet-Biedl syndrome (BBS) is genetically heterogeneous with 15 BBS genes
currently identified, accounting for approximately 70% of cases. The aim of our study was to …

Abstract Background: Bardet-Biedl Syndrome (BBS) is a complex genetic disorder that
affects various systems in the body, including the visual system. The aim of this study is to …

purpose. To define the retinal phenotype in patients with the Bardet-Biedl syndrome and
mutations in the BBS1 gene. methods. Ten patients (age range, 16–48 years), representing …

Objective To determine whether mutations in different Bardet-Biedl syndrome (BBS) genes
result in different ocular phenotypes. Methods Thirty-seven patients from 31 families were …

AIMS To describe the variation of the phenotype within families with several individuals with
Bardet–Biedl syndrome. METHODS The phenotypes of affected siblings in 11 Scandinavian …

Bardet–Biedl syndrome is a genetically heterogeneous multisystem disorder that causes
severe visual impairment. Retinitis pigmentosa (RP), hypogonadism, digit and renal …

Background: To report the clinical findings in two brothers presenting with a pigmentary
retinopathy and post-axial polydactyly, who were found to have a mutation in the BBS1 …

The aim of this study was to characterize the ophthalmic and genetic features of Bardet Biedl
(BBS) syndrome in a cohort of patients from a German specialized ophthalmic care center …

Purpose To present the case of two siblings with a genetic diagnosis of Bardet Biedl
syndrome (BBS) type 1, yet different clinical profiles and disease manifestations …