Bosch-Boonstra-Schaaf optic atrophy syndrome

Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS) is a rare neurological disorder characterized by a wide array of clinical features. The most common symptoms associated with BBSOAS include:

• Vision impairment: Due to optic atrophy, which can lead to decreased visual acuity and visual field defects [1].
• Developmental delay: Children with BBSOAS may experience delayed development in various areas, including cognitive, motor, and language skills [3][5].
• Intellectual disability: Individuals with BBSOAS often have intellectual disabilities, ranging from mild to severe [2][4][6].
• Seizures/epilepsy: Seizures are a common feature of BBSOAS, affecting many individuals with the condition [1][3].
• Dysmorphic facial features: While not specific, dysmorphic facial features can be present in some individuals with BBSOAS [5][7].

Other symptoms and signs associated with BBSOAS include:

• Hypotonia (low muscle tone)
• Oromotor dysfunction
• Autism spectrum disorder
• Repetitive behaviors

It's essential to note that the severity and presentation of these symptoms can vary widely among individuals with BBSOAS. A comprehensive diagnosis, including genetic testing, is necessary for accurate identification of the condition [11].

Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) can be diagnosed through various genetic tests, which are recommended by a geneticist.

• Chromosome microarray: This test is used to identify any chromosomal abnormalities that may be associated with BBSOAS.
• Whole exome sequencing: This test involves sequencing the entire exome of an individual's genome to identify any genetic variants that may be causing the syndrome.
• NR2F1 sequencing: This test specifically targets the NR2F1 gene, which is responsible for BBSOAS. It can help confirm a diagnosis and identify any mutations in the gene.

These tests are typically recommended after a clinical evaluation by a geneticist or other healthcare professional, who will assess an individual's symptoms and medical history to determine if they may have BBSOAS [1][2].

In addition to these genetic tests, other diagnostic approaches may also be used, such as:

• Imaging studies: These can help identify any structural abnormalities in the brain or eyes that may be associated with BBSOAS.
• Electroencephalogram (EEG): This test can help evaluate an individual's electrical activity in the brain and may be useful in diagnosing epilepsy, which is a common feature of BBSOAS [3].

It's worth noting that a diagnosis of BBSOAS is typically established through a combination of clinical evaluation, genetic testing, and other diagnostic approaches. A healthcare professional will work with an individual to determine the best course of action for their specific situation.

References: [1] Context 1: Diagnosis. [2] Context 4: Diagnosis/testing. [3] Context 9: by NK Desai · 2023 · Cited by 2 — This study reports common neuroimaging findings in a cohort of 21 individuals with BBSOAS that collectively suggest the diagnosis.

Symptom Management for Bosch-Boonstra-Schaaf Optic Atrophy Syndrome

Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a rare genetic condition associated with visual impairment, developmental delay, seizures/epilepsy, and intellectual disability. While there is no cure for BBSOAS, various treatments can help manage its symptoms.

Treatment Options:

• Anti-epileptic drugs (AEDs): For individuals experiencing seizures or epilepsy, AEDs can be prescribed to control and reduce the frequency of these episodes.
• Low vision therapy: Low vision specialists can provide assistance for individuals with significant visual impairment, helping them adapt to their condition and improve their quality of life.
• Behavioral therapies: Behavioral therapies, such as a behavior rating scale, may be used to assess treatment effects and develop strategies for managing behavioral challenges associated with BBSOAS.

Current Research and Developments:

Research on BBSOAS is ongoing, and new treatments are being explored. For example, studies have investigated the use of vigabatrin and high-dose prednisolone therapy for individuals with BBSOAS. However, more research is needed to fully understand the effectiveness of these treatments and to identify potential new therapies.

Consulting a Healthcare Professional

It's essential to consult with a healthcare professional for personalized medical advice and treatment. They can help determine the best course of action based on individual needs and circumstances.

Citations:

• [1] Treatment of manifestations: ... Walkiewicz M, Veluchamy V, Li C, Hisama FM, de Vries BB, Schaaf CP. (2014). Bosch-Boonstra-Schaaf optic atrophy syndrome: a review of the literature.
• [7] Clinical resource with information about Bosch-Boonstra-Schaaf optic atrophy syndrome and its clinical features, NR2F1, available genetic tests from US and ...
• [11] the eye and optic nerve. NR2F1 works as a homodimer and contains a DNA-binding domain (DBL)) formed by two zinc-finger domains as well as a ligand-binding domain (LBD). Loss-of-function variants in NR2F1 are associated with Bosch-Boonstra-Schaaf optic atrophy syndrome and the phenotypic presentation. Inheritance: The majority of cases are De Novo.
• [13] Knowledge on rare diseases and orphan drugs ... Bosch-Boonstra-Schaaf optic atrophy syndrome; Source: PubMed ID 24462372 26986877. Prevalence: <1 / 1 000 000.

Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a rare genetic condition, and its differential diagnosis can be challenging due to overlapping features with other disorders. Here are some conditions that may be considered in the differential diagnosis of BBSOAS:

• Congenital Disorders of Glycosylation (CDG): CDG is a group of rare genetic disorders caused by defects in glycosylation, which is the process of adding carbohydrate molecules to proteins and lipids. CDG can present with similar clinical features to BBSOAS, including developmental delay, intellectual disability, and visual impairment [9][10].
• Optic Nerve Hypoplasia: This condition is characterized by underdevelopment or hypoplasia of one or both optic nerves, which can lead to vision loss. In some cases, optic nerve hypoplasia may be associated with developmental delay and intellectual disability [12].
• Autism Spectrum Disorder (ASD): ASD is a neurodevelopmental disorder that affects communication, social interaction, and behavior. Some individuals with BBSOAS may also have ASD or traits of ASD, which can make differential diagnosis challenging [3][11].

It's essential to note that the differential diagnosis between these conditions may be difficult and relies on molecular genetic testing. A comprehensive evaluation by a multidisciplinary team of healthcare professionals, including neurologists, ophthalmologists, and geneticists, is necessary to accurately diagnose BBSOAS.

References:

[9] Due to its many overlapping features with congenital disorders of glycosylation (CDG), the differential diagnosis between these disorders may be difficult and ...

[10] Differential diagnosis. One of the most common findings of BBSOAS is optic atrophy so a broad differential including genetic, compressive, toxic, infectious, inflammatory, and other causes should be considered.

[12] Evaluation by a neuro-ophthalmologist showed that both optic nerves otherwise were normal in size, supporting a diagnosis of optic nerve hypoplasia. Retinal nerve fiber layer optical coherence tomography revealed retinal nerve fiber layer thinning ...

[3] 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.

[11] 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.