Bardet-Biedl syndrome is a rare, inherited disorder that causes a number of abnormalities in the way certain parts of the body function – including a person’s vision.
• Vision loss caused by retinal dystrophy. Central vision loss is often experienced first, with more severe vision loss often experienced by the teenage years or early adulthood.
• Obesity, usually more pronounced in the area of the torso (truncal obesity).
• Extra fingers and/or toes (polydactyly), or minor abnormalities of the hands and feet such as slight webbing or extra skin between the fingers and toes.
• Lack or decreased secondary sex characteristics (hypogonadism).
• Developmental delay.
• Kidney problems.
There is no treatment for the severe vision impairment associated with Bardet-Biedl syndrome. As vision worsens, individuals may benefit from low vision aids and, eventually, mobility training.
The Foundation Fighting Blindness funds leading research into the vision loss associated with Bardet-Biedl syndrome, and encourages people living with this disease to enrol in the FFB Patient Registry, which will keep you updated on emerging clinical trials and opportunities to participate.