The NR2F1 Foundation is making history with the launch of the first BBSOAS CVI Clinic on April 21, 2023. The clinic, led by Dr. Veeral Shah and his team who work at Cincinnati Children’s Hospital, is a major milestone for the NR2F1 Foundation and our community!
Individuals with BBSOAS will be invited to attend the CVI Clinic at regular intervals for a comprehensive physical and visual assessment including neuro-ophthalmic evaluation of optic nerves, CVI severity testing, and MRI of the anterior and posterior visual pathways recently observed to be anatomically affected in patients with CVI.
The Center of Excellence impact on research
Dr. Veeral Shah, a pediatric neuro-ophthalmologist, will direct the multi-disciplinary BBSOAS CVI Clinic, which will initially include 3 BBSOAS patients. The team will include those who run the CVI Clinic; Terry L. Schwartz, MD, a pediatric ophthalmologist, Karen L. Harpster, PhD, OTR/L, an occupational therapist III, and Melissa Rice, OD, FAAO, a pediatric optometrist. Patients will be studied longitudinally with a 1-, 3-, and 5-year follow-up, and additional assessments will be performed using validated measures for neurodevelopmental disorders, as well as patient-reported outcome measures through collaboration with the NR2F1 Foundation and the NR2F1 Patient Registry in Across Healthcare Matrix. As an ultra-rare disorder, we are incredibly fortunate to have the perfect combination of expertise within one medical institution. Dr. Veeral Shah, who has been a trusted Scientific Advisor to the NR2F1 Foundation since its inception and sits on our Scientific Advisory Board, is able to provide insights on our patients as both a pediatric neuro-ophthalmologist and also an authority in Cerebral Visual Impairment (CVI). This clinic, in collaboration with Dr. Shah's colleagues at the Cincinnati Children's Hospital CVI Clinic, will enhance our capacity to further research into the impact of the NR2F1 gene and give us a methodical approach to gathering natural history data.
BBSOAS CVI Clinic Goal
With the goal of finding viable treatments for our patients, one of the challenges we now face is the absence of a validated outcome measure for CVI. For our patients and their caregivers, vision is crucial to learning and daily life. This affects not just BBSOAS but also a much larger population of neurodevelopmental disorders. The clinic will offer the ideal coalition of physicians and patients to study and develop this outcome measure. Dr. Veeral Shah, MD, PH.D. Dr. Shah is a Pediatric Neuro Ophthalmologist in the Division of Pediatric Ophthalmology at Cincinnati Children’s Hospital Medical Center. He is also an Assistant Professor at the UC Department of Ophthalmology. Dr. Shah is a pediatric and adult neuro-ophthalmologist with clinical interests that include demyelinating diseases, nystagmus, eye movement abnormalities, cranial nerve palsies, optic nerve hypoplasia, craniofacial diseases, intracranial tumors, optic neuropathy, complex strabismus, and ocular genetics/electrophysiology. Dr. Shah said, “We’re excited to start a BBSOAS (NR2F1) Clinic at the CVI Clinic at Cincinnati Children’s Medical Center! Our goal is to provide holistic and personalized medical care to BBSOAS children and youths afflicted with neuro-ophthalmology and vision development conditions through superior care coordination, translational cutting-edge resources, and pioneering scientific discovery.”
BBSOAS Caregivers and/or patients interested in an examination at the BBSOAS CVI Clinic can send an email to ophthalmology@cchmc.org or call the main scheduling department at 513-636-4751 and leave a message that you would like to schedule an appointment with Dr. Shah at the CVI Clinic.