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Bardet Biedl Syndrome Family Association

Connecting families and sharing information on research, treatment, and therapies for Bardet Biedl Syndrome.

Dr. Elise Heon, Ophthalmologist from Toronto's Hospital for Sick Children

Dr. Heon is a practicing ophthalmologist in Toronto and presented about her work with BBS patients. Highlights:

1) The first principle we have to remember is that most therapies aren’t yet fully tested and can do harm. Even Vitamin A only helps a small percentage of RP patients and actually reduces vision of others. The Vitamin A available in stores is not reliable–could be much stronger or weaker than it says and could be contaminated. Do not just start taking Vitamin A or anything else.

2) Why aren’t we all taking TUDCA already? Because the dosage used in the mouse study would be quite dangerous to human beings.

3) What we need now is fundraising and pressure for funding of clinical tests to establish safety and efficacy of the therapies.

4) Another thing that would be hugely useful for doctors is an international database of clinical findings of patients associated with identified mutations so we can figure out interactions.

5) It is unfortunate that people still say that Mental Retardation is a feature of BBS. It is not. There are developmental delays and some cognitive impairment in some BBS people, but it is by no means mental retardation as classically understood and most impairments can be overcome with standard therapies and accommodations. You wouldn’t say someone with dyslexia has mental retardation and you shouldn’t say that someone with BBS has MR.

6) Important to keep in mind that there are no validated IQ tests that are modified for visual impairment. So you have to be skeptical about any IQ measurement of a person with a visual impairment.

7) One easy and safe thing to do to protect retinas is a diet high in anti-oxidants (green vegetables, dark fruits for instance)