FEVR (Familial Exudative Vitreoretinonpathy) is a major health concern for CTNNB1 patients, and thanks to a recent publication by Dr. Drew Scoles, caregivers now have an important resource for getting the proper testing.
In this case series study of 11 CTNNB1 patients, nearly all required ophthalmic care for refractive error and strabismus, and a subset also required treatment for FEVR. These findings support consideration of ultra-widefield fluorescein angiography among individuals with CTNNB1 syndrome when feasible, including the use of sedation if such an assessment is not possible in the office setting.
Dr. Scoles is a member of CCC’s Scientific Advisory Board and has treated several members of our community at Children’s Hospital of Philadelphia. Dr. Scoles hopes this publication can be a helpful resource for you to provide to your healthcare team. Simply share this link with them: https://jamanetwork.com/journals/jamaophthalmology/article-abstract/2822244.
If you would like your own copy of this publication, please contact us!
