The Bosch–Boonstra–Schaaf Optic Atrophy Syndrome: Clinic, Genetics, and EEG Findings in the Course—A Case Report

Background/Purpose: The Bosch–Boonstra–Schaaf optic atrophy syndrome (BBSOAS) is a rare autosomal dominant disease caused by missense variants or deletions in the NR2F1 gene, an important regulator of transcription in neurons and other tissues. As of January 2020, a total of 36 cases of BBSOAS had been described. The patients show variable degrees of optic atrophy or hypoplasia and other eye symptoms (strabismus, nystagmus, low vision, etc.), delayed development, intellectual disorder, muscular hypotension, craniofacial anomalies, autism spectrum disorder (up to 80%), epileptic seizures (up to 52%) and possibly structural changes in the CNS.

Methods: We report on an 11-year-old patient (clinical, neurological, ophthalmological, genetic, and psychological examinations; video EEG; amplitude and frequency mapping; MRT) over the course of 10 years.

Results: Currently, intellectual disorder and speech development disorder, low vision, ptosis right, nystagmus, hyperopia, and astigmatism. Motor coordination is impaired. There are no pathological reflexes, and no seizures. The EEG shows up from the seventh month of life an occipital slowing. At the age of 3 years and 8 months, then spikes and sharp waves of occipital. From the age of 5 years and 8 months, an increase in spikes, poly-spikes, and sharp wave complexes and formation of the Rolando focus centrotemporal right and left without clinical seizures. Along with the EEG findings, there were increasing abnormalities in frequency and amplitude mapping. Ophthalmological findings show a pale papilla and reduced visual acuity. Genetic diagnosis was confirmed at the age of 9, with evidence of a pathogenic NR2F1 sequence variant.

Conclusion: The diagnosis of the rare BBSOAS syndrome is important for the treatment and care strategy of the child; this works well through close cooperation between the clinic, SPZ, genetic, parents, and conveyor. In the presented case, the time correlation between clinical, electrophysiological, and (partial) ophthalmological findings is particularly striking.

Publication History

Article published online:
28 October 2021