My mother is almost blind. Her diagnosis is Bardet-Biedl syndrome. She has no other symptoms besides being almost blind. Is there any cure or treatment for Bardet-Biedl syndrome anywhere in the world? Thank you very much.
There is no cure for Bardet-Biedl syndrome. Treatment generally focuses on the specific signs and symptoms that each individual has. Although there is no therapy for the progressive vision loss, early evaluation by a specialist can help to provide vision aids and mobility training. Furthermore, the education of affected children should include planning for future blindness. The management of obesity may include education, diet, exercise, and behavioral therapies beginning at an early age. Complications of obesity, such as abnormally high cholesterol and diabetes mellitus, are usually treated as they are in the general population. Management of intellectual disability includes early intervention, special education and speech therapy as needed. Many affected adults are able to develop independent living skills.
Although kidney transplants have been successful, the immunosuppressants used after a transplant may contribute to obesity. Affected individuals may undergo surgical correction of polydactyly (extra fingers and/or toes) and genital abnormalities. As children approach puberty, hormone levels should be monitored to determine if hormone replacement therapy is necessary. Additionally, it should not be assumed that affected individuals are infertile so contraception advice should be offered.
Last updated: 7/18/2016
We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please