Bosch–Boonstra–Schaaf optic atrophy syndrome

A rare genetic disorder affecting vision and development

Bosch–Boonstra–Schaaf optic atrophy syndrome (BBSOAS) is a rare genetic disorder characterized by optic atrophy, developmental delay, and intellectual disability. It is caused by mutations in the NR2F1 gene, which plays a crucial role in the development of the nervous system.

Genetics

BBSOAS is inherited in an autosomal dominant manner, meaning that a single copy of the mutated gene is sufficient to cause the disorder. The NR2F1 gene, located on chromosome 5, encodes a nuclear receptor that is involved in the regulation of gene expression during embryonic development. Mutations in this gene disrupt normal development, leading to the symptoms observed in BBSOAS.

Autosomal dominant inheritance pattern

Clinical Features

Individuals with BBSOAS typically present with a range of symptoms, including:

• Optic atrophy: This is the primary feature of the syndrome, leading to vision impairment due to the degeneration of the optic nerve.
• Developmental delay: Affected individuals often experience delays in reaching developmental milestones such as walking and talking.
• Intellectual disability: The severity of intellectual disability can vary, but it is a common feature of the syndrome.
• Seizures: Some individuals may experience epileptic seizures.
• Behavioral issues: These can include autism spectrum disorder-like behaviors, anxiety, and attention deficit hyperactivity disorder (ADHD).

Diagnosis

Diagnosis of BBSOAS is based on clinical evaluation and genetic testing. The presence of optic atrophy, developmental delay, and intellectual disability may prompt genetic testing for mutations in the NR2F1 gene. Molecular genetic testing can confirm the diagnosis by identifying pathogenic variants in the gene.

Management

There is currently no cure for BBSOAS, and management focuses on addressing the symptoms and improving quality of life. This may include:

• Vision support: Regular eye examinations and visual aids can help manage vision impairment.
• Developmental therapies: Speech therapy, occupational therapy, and physical therapy can support developmental progress.
• Educational support: Special education services may be necessary to address learning difficulties.
• Seizure management: Antiepileptic drugs may be prescribed to control seizures.

Prognosis

The prognosis for individuals with BBSOAS varies depending on the severity of symptoms. Early intervention and supportive therapies can improve outcomes and help individuals achieve their full potential.

Related pages

• Optic atrophy
• Intellectual disability
• Autosomal dominant disorder
• NR2F1 gene