2023年5月31日 · BBSOAS, also known as Bosch-Boonstra-Schaaf Optic Atrophy Syndrome, is a rare neurological disorder caused by a disruption in the NR2F1 gene. BBSOAS is characterized by a wide array of clinical features, but the most common are vision impairment caused by optic atrophy, developmental delay, and intellectual disability.

Bosch–Boonstra–Schaaf optic atrophy syndrome is a rare autosomally inherited condition characterised by developmental delay, intellectual disability and decreased visual acuity. [2][3][4] All patients described have suffered from developmental delay, intellectual disability (intelligence quotient range 48–74) and decreased visual acuity.

Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a rare, autosomal dominant disorder that presents in early childhood. In 2014 Bosch et al first described six individuals with cortical visual impairment or optic nerve abnormalities who had a mutation in the nuclear receptor subfamily 2, group F, member 1 (NR2F1) gene, also known as COUP ...

What is Bosch-Boonstra-Schaaf optic atrophy syndrome? Bosch-Boonstra-Schaaf optic atrophy syndrome, also referred to as BBSOAS, is a rare genetic condition associated with visual impairment, development delay, seizures/epilepsy and intellectual disability. As is common with genetic conditions, each person is affected

2020年11月6日 · Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is an autosomal dominant disorder characterized by delayed development, moderately impaired intellectual development, and optic atrophy. Most patients also have evidence of cerebral visual impairment. Dysmorphic facial features are variable and nonspecific (summary by Bosch et al., 2014).

Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a recently described autosomal dominant syndrome of developmental delay, cortical vision loss with optic nerve atrophy, epilepsy, and autism spectrum disorder. Due to its many overlapping features with congenital disorders of glycosylation (CD …

Bosch-boonstra-schaaf optic atrophy syndrome is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing.

Clinical resource with information about Bosch-Boonstra-Schaaf optic atrophy syndrome and its clinical features, NR2F1, available genetic tests from US and labs around the world and links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, clinicaltrials.gov, PharmGKB

2022年7月28日 · Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is an autosomal dominant disorder characterized by delayed development, moderately impaired intellectual development, and optic atrophy. Most patients also have evidence of cerebral visual impairment. Dysmorphic facial features are variable and nonspecific (summary by Bosch et al., 2014).

2022年4月8日 · Here, we review the pathophysiology of the Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS; OMIM 615722; ORPHA 401777), a recently described monogenic neurodevelopmental syndrome caused by the haploinsufficiency of NR2F1 gene, a key transcriptional regulator of brain development.