Abstract
Bardet–Biedl syndrome (BBS; OMIM 209900) is a rare genetic disease causing damage to multiple organs and affecting patients’ quality of life in late adolescence or early adulthood. In this study, the ocular characteristics including morphology and function, were analyzed in 12 BBS patients from 10 Chinese families by molecular diagnostics. A total of five known and twelve novel variants in four BBS genes (BBS2, 58.33%; BBS4, 8.33%; BBS7, 16.67%; and BBS9, 16.67%) were identified in 10 Chinese families with BBS. All patients had typical phenotypes of retinitis pigmentosa with unrecordable or severely damaged cone and rod responses on full-field flash electroretinography (ffERG). Most of the patients showed unremarkable reactions in pattern visual evoked potential (PVEP) and multifocal electroretinography (mfERG), while their flash visual evoked potentials (FVEP) indicated display residual visual function. Changes in the fundus morphology, including color fundus photography and autofluorescence (AF) imaging, were heterogeneous and not consistent with the patients’ functional tests. Overall, our study expands the variation spectrum of the BBS gene, showing that the ocular characteristics of BBS patients are clinically highly heterogeneous, and demonstrates the usefulness of a combination of the ffERG and FVEP assessments of visual function in the advanced stage of retinopathy in BBS.
Highlights
Bardet–Biedl syndrome (BBS; OMIM 209900) is a genetic disease causing damage to multiple organs, including early onset progressive retinitis pigmentosa (RP), obesity, hypogonadal hypoplasia, hand and/or foot polydactyly, intellectual disability, abnormal renal development (Bardet, 1995; Biedl, 1995)
Five patients had undergone surgical extra toe removal at an early age, and one side ovary was removed from F6-II:1 due to acute torsion of a unilateral polycystic ovary cyst
ALMS1 gene which belong to Alström syndrome was not tested genetically specially by the patients (F1-II:1, F3-II:1, and F3-II:2) which have hearing disturbances, the disease-causing gene of BBS we identified was co-segregated with the family members and phenotype
Summary
Bardet–Biedl syndrome (BBS; OMIM 209900) is a genetic disease causing damage to multiple organs, including early onset progressive retinitis pigmentosa (RP), obesity, hypogonadal hypoplasia, hand and/or foot polydactyly, intellectual disability, abnormal renal development (Bardet, 1995; Biedl, 1995). Fundus manifestations include optic disk pallor, bone spicule pigment deposits, thinning of the blood vessels, and Ocular Characteristics in Bardet–Biedl Syndrome Patients retinal osteocyte pigmentation (Riise et al, 1996; Moore et al, 2005). Defects in any one subunit will adversely affect the formation or function of the BBSome, causing the BBS phenotype (Khan et al, 2016; Priya et al, 2016; Weihbrecht et al, 2017). BBS treatment focuses on managing diabetes, hypertension, and metabolic syndrome to minimize the secondary effects of the disease on vulnerable organs
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