In collaboration with a multi-disciplinary CVI team led by Dr. Veeral Shah, a pediatric neuro-ophthalmologist, the NR2F1 Foundation helped make history with the launch of the first day of the BBSOAS CVI Clinic on April 21st at Cincinnati Children’s Hospital.
Three families took part in this historical day which began with an evaluation at Cincinnati Children’s Vision Rehabilitation Program in the cerebral visual impairment (CVI) clinic founded by Dr. Terry Schwartz. The team included 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. This was followed by an ophthalmology examination by Dr. Shah, which included details on the ocular findings and prescription recommendations for eyeglasses.
Dr. Shah examines Sidelle
Melissa Rice performs an eye exam with Sidelle
Carlie and Jeff brought their 10-year-old daughter, Sidelle, to the BBSOAS clinic, and they were impressed with the knowledge of the team and how well they worked with Sidelle. Carlie says, “They were patient, thorough, friendly, and professional. It’s difficult to get Sidelle engaged in a testing environment but they were very natural and flexible while implementing strategies to keep her interest. They gave her breaks when she needed them and learned quickly what motivated her. We just sat back and watched in amazement!”
CVI Report Recommendations
The visit culminated in a CVI report sent to each family detailing impressions and recommendations for their child in areas, including OT, educational, and orientation/mobility. The report also included a long list of CVI resources and information.
Brenda, mom to 7-year-old Sawyer, said, “It was the most comprehensive evaluation he’s had since his diagnosis 5 years ago. It was mind-blowing to learn more about how Sawyer’s vision works and how he interprets what he sees.”
Since the vast majority of doctors and specialists know nothing about BBSOAS and CVI, it’s typically the parents who do the teaching. This can be exhausting and frustrating. Carlie says, “It was a relief to finally see specialists and learn from them; not the other way around.”
Carlie and Jeff, parents of Sidelle at the clinic with fellow BBSOAS patient, Sawyer and his mom Brenda and dad
Future Visits
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 and CVI severity testing.
Dr. Shah and his team plan on seeing BBSOAS patients every month. These visits are not only invaluable for the families, but they also inform BBSOAS (and CVI) research. Each patient, one by one, is helping the NR2F1 Foundation build a natural history study that will inform research to discover potential treatments to improve the quality of life for everyone living with BBSOAS.
The CVI Clinic and it’s impact on research
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 BBSOAS clinic, in collaboration with Dr. Shah’s colleagues at the 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 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.”
Interested in having your child evaluated at the BBSOAS CVI Clinic at Cincinnati Children’s Hospital?
- Email Ophthalmology@cchmc.org
OR
- Call the main scheduling at 513-636-4751 and leave a message that you are interested in seeing Dr. Shah for the BBSOAS CVI Clinic
Carlie is the Vice President of the Board of Directors for the NR2F1 Foundation, a registered 501(c)(3) non-profit organization dedicated to those living with rare mutations on the Nr2f1 gene.
With a B.S. in Special Education and a M.S. in Counseling, Carlie has worked at EPU Children’s Center as a Resource Specialist serving parents of children living with disabilities and then directed a parent leadership group for disability advocacy through storytelling and public speaking.
Carlie lives with her husband Jeff and their two daughters, one of whom has the rare Nr2f1 gene mutation, in Royal Oak, Michigan. She wants all Nr2f1 families whose lives have changed dramatically to know they are not alone.
