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An inaugural family conference for Bosch-Boonstra-Schaaf Optic Atrophy Syndrome brings together key stakeholders

An inaugural Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS) family conference was held last month in Houston. This free family conference provided education to families about the syndrome and served as a way to promote community-building by bringing together key stakeholders such as the physicians, researchers, patients and their families.

BBSOAS was first described by Drs. Danielle Bosch, Nienke Boonstra and Christian Schaaf in a paper published in the American Journal of Human Genetics in 2014. This study showed this rare neurological disorder is caused by a disruption (mutation or deletion) in the NR2F1 gene on chromosome 5.

This syndrome is characterized by a wide array of clinical features, the most common of which are: developmental delays, cognitive disabilities, low muscle tone (hypotonia) at birth, and vision impairment caused by a small and pale optic nerve and/or cortical visual impairment (CVI). Learn more.

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 families of 27 patients (a total of 100 people), traveled to Houston to attend this conference. It is notable that some of the attendees traveled from as far as the Netherlands, Peru and Lebanon.

The event was hosted by Dr. Christian Schaaf, professor for Clinical Genomics and medical director of Clinical Genetics at the University of Cologne in Germany. He is also a visiting professor at Baylor College of Medicine and the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital in Houston.

The following medical professionals and researchers shared their clinical knowledge and scientific findings about this syndrome with the families:

  • Bosch (clinical geneticist in training, University Medical Center Utrecht), together with Schaaf, presented on the clinical features of BBSOAS.
  • Dr. Jane Edmond (director of the Mitchel and Shannon Wong Eye Institute, professor and inaugural chair of the Department of Ophthalmology at the Dell Medical School at The University of Texas at Austin and an adjunct professor in the Department of Ophthalmology at Baylor College of Medicine) spoke about the causes of visual impairment in BBSOAS.
  • Dr. Fred Pereira (associate professor at Baylor College of Medicine) spoke about the molecular aspects of NR2F1 regulation and its effects on this syndrome.
  • Sara Kitchen and Lynne McAlister (outreach consultants for the Texas School for the Blind and Visually Impaired) presented strategies to support children with CVI.
  • Special guest Dr. Ana Treviño-Godfrey (director of Prelude Music Classes for Children) facilitated a music activity for the group.
  • Ms. Carmen Fahed, mother of the first patient to be diagnosed with this syndrome, spoke at the welcome dinner.

Those in attendance also had an opportunity to be examined by either Edmond or Dr. Veeral Shah, a pediatric neuro-ophthalmologist at Texas Children’s Hospital, as well as to meet one-on-one with Schaaf. While the main focus of these visits was to answer families’ questions, the physicians also gained deeper insight into the various clinical aspects of BBSOAS, which they hope will improve their understanding of this syndrome.

The conference concluded with a roundtable discussion on the future initiatives to support BBSOAS patients and families, as well as the scientists studying this disorder.

Rajalaxmi Natarajan Ph.D.
Wednesday, May 23, 2018