While this is a rare diagnosis, you are not alone!
If your child has been diagnosed with Bosch-Boonstra-Schaaf optic atrophy syndrome (a mutation/deletion of the Nr2f1 gene), we would love to connect with you and provide you with as much information about the genetic disorder as we can. Please click the button below and complete the form and/or join our BBSOAS Community. We will be in touch with you soon.Join The BBSOAS Community
NR2F1 Patient Registry
The NR2F1 patient registry collects data for research and pharmaceutical development, as well as helps caregivers track their loved one’s symptoms. Your child’s medical information could assist researchers in finding new discoveries and could lead to the development of therapies for BBSOAS patients.
By working together, we can help further research and advocacy efforts for all those affected by a variant of the NR2F1 gene. Please help us advance our knowledge of the symptoms and progression of BBSOAS by participating in our patient registry.
It only takes a few minutes to help improve lives!Patient Registry Link *COMING SOON*