Related Experiment Video
Updated: Jan 31, 2026
Conscious and Non-conscious Representations of Emotional Faces in Asperger's Syndrome
Published on: July 31, 2016
Ciliopathy: Bardet-Biedl Syndrome
Stephen H Tsang1,2, Alicia R P Aycinena3, Tarun Sharma4
1Jonas Children’s Vision Care, Bernard & Shirlee Brown Glaucoma Laboratory, Columbia Stem Cell Initiative-Departments of Ophthalmology, Biomedical Engineering, Pathology & Cell Biology, Institute of Human Nutrition, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.
Bardet-Biedl syndrome (BBS) is a rare genetic disorder affecting multiple organs. Early diagnosis and management of its diverse symptoms, including vision loss and kidney dysfunction, are crucial for patient outcomes.
Area of Science:
- Genetics
- Ophthalmology
- Nephrology
Background:
- Bardet-Biedl syndrome (BBS) is an autosomal recessive genetic disorder.
- It affects approximately 1 in 125,000 individuals worldwide.
- BBS presents with significant phenotypic variability.
Purpose of the Study:
- To provide a comprehensive overview of Bardet-Biedl syndrome.
- To detail the genetic heterogeneity and clinical manifestations of BBS.
- To highlight the progressive nature of key symptoms like vision impairment and renal dysfunction.
Main Methods:
- Review of existing literature and clinical data on Bardet-Biedl syndrome.
- Analysis of prevalence, genetic basis, and phenotypic characteristics.
- Description of diagnostic indicators, including electroretinography (ERG).
Main Results:
- BBS involves progressive rod-cone dystrophy, often apparent by age 6, leading to severe vision loss by age 30.
- Common features include postaxial polydactyly, obesity, hypogonadism, and mental retardation.
- Renal malformations and dysfunction are prevalent, with 50-80% of patients developing end-stage renal disease.
- Ophthalmological findings include retinal pigmentary changes, attenuated blood vessels, and optic disc pallor, with ERG abnormalities preceding fundus changes.
Conclusions:
- Bardet-Biedl syndrome is a complex genetic disorder with multisystemic involvement.
- Early identification of visual and renal complications is critical.
- Understanding the genetic and phenotypic spectrum aids in managing BBS patients.
More Related Videos
09:39Generation of Induced Pluripotent Stem Cells from Turner Syndrome 45XO Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome
Published on: December 4, 2021
05:12Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome
Published on: September 19, 2019
Related Concept Videos
01:24Nephrotic Syndrome I : Introduction
01:30Acute Coronary Syndrome I: Introduction
01:17Irritable Bowel Syndrome I: Introduction
IBS is a chronic condition that can persist over a long period or recur frequently.
The pathogenesis of IBS involves a complex interplay of the following factors:
Altered...
01:27Restless Leg Syndrome and Night Terrors
The exact cause of RLS is not fully understood, but it is believed to involve dopamine, a neurotransmitter that helps regulate muscle movement. Imbalances in dopamine levels...
01:26Acute Coronary Syndrome V: Nursing Management
01:26Nephrotic Syndrome II : Assessment and Medical Management