Common Neuroimaging Findings in Bosch-Boonstra-Schaaf Optic Atrophy Syndrome

Area of Science:

• Genetics
• Neurology
• Ophthalmology

Background:

• Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a rare autosomal dominant disorder.
• It is caused by mutations in the NR2F1 (COUP-TF1) gene.
• BBSOAS is characterized by vision impairment, developmental delay, cognitive deficits, and seizures.

Purpose of the Study:

• To identify and report common neuroimaging findings in individuals with BBSOAS.
• To establish a pattern of neuroimaging abnormalities that can aid in the diagnosis of BBSOAS.
• To correlate neuroimaging findings with the clinical presentation of BBSOAS.

Main Methods:

• Retrospective analysis of neuroimaging data from 21 individuals diagnosed with BBSOAS.
• Detailed review of MRI scans to identify specific structural abnormalities in the brain and optic nerves.
• Comparison of imaging findings across the cohort to identify common patterns.

Main Results:

• Common neuroimaging findings included mesial temporal and perisylvian dysgyria.
• Posterior predominant white matter volume loss and callosal abnormalities were frequently observed.
• Optic nerve and lacrimal gland volume loss were also significant findings in the cohort.

Conclusions:

• The identified neuroimaging findings provide a collective signature suggestive of BBSOAS.
• These findings can assist clinicians in diagnosing BBSOAS, especially in cases with ambiguous clinical presentations.
• Further research can explore the relationship between specific NR2F1 mutations and distinct neuroimaging phenotypes.