Boonstra-Schaaf Optic Atrophy Syndrome Family Conference

Authors: Megan Rech, Research Coordinator, Baylor College of Medicine

Keywords: Boonstra-Schaaf Optic Atrophy Syndrome, BBSOAS, cortical visual impairment, optic atrophy, visual impairment, Texas School for the Blind and Visually Impaired Outreach (TSBVI)

The inaugural Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS) Family Conference was held in Houston, Texas on April 27th and 28th. BBSOAS is a rare neurological disorder caused by a disruption in the NR2F1 gene on chromosome 5. The syndrome is characterized by a wide array of clinical features, but the most common are developmental delay, intellectual disability, low muscle tone (hypotonia) at birth, and vision impairment caused by a small and pale optic nerve and/or cortical visual impairment (CVI). There are currently about 55 known cases of BBSOAS worldwide. Though there is presently no cure for BBSOAS, with early intervention and proper management, much can be done to improve the quality of life of those affected.

The purpose of the conference was not only to provide education through presentations from leading researchers and medical professionals, but also to promote community-building by facilitating opportunities for families to get to know and learn from each other.

The conference was hosted by the lab of Dr. Christian Schaaf, a Professor for Clinical Genomics and the Medical Director of Clinical Genetics at the University of Cologne in Germany and Visiting Professor at Baylor College of Medicine and the Jan and Dan Duncan Neurological Research Institute in Houston. In addition to Dr. Schaaf, several other collaborators and experts shared their knowledge with families.

Dr. Danielle Bosch (UMC Utrecht, photo right), together with Dr. Schaaf, presented on the clinical features of BBSOAS, while Dr. Fred Pereira (Baylor College of Medicine) spoke about the molecular aspects of the syndrome.

The conference also highlighted vision research, with a presentation from TSBVI Outreach Consultants Sara Kitchen and Lynne McAlister on supporting children with CVI, and a talk from Dr. Jane Edmond on the causes of visual impairment in the syndrome. Dr. Edmond is the Director of the Mitchel and Shannon Wong Eye Institute and Professor and Inaugural Chair of the Department of Ophthalmology at the Dell Medical School at the University of Texas at Austin, and she is also an Adjunct Professor in the Department of Ophthalmology at Baylor College of Medicine. In addition, special guest Dr. Ana Treviño-Godfrey (Director of Prelude Music Classes for Children) facilitated a music activity for the group.

As part of the event, families also had an opportunity to be examined by Dr. Edmond or Dr. Veeral Shah, a pediatric neuro-ophthalmologist at Texas Children’s Hospital, as well as to meet one-on-one with Dr. Schaaf. While the focus of these visits was to answer families’ questions, the hope is that findings from these visits will lead to a more comprehensive characterization of the syndrome.

All in all, 27 families, or about 100 people, traveled to Houston for the conference.

To learn more about BBSOAS, please visit https://www.bcm.edu/research/labs/christian-schaaf/nr2f1.