Bosch-Boonstra-Schaaf optic atrophy syndrome

Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a rare genetic disorder characterized by a variety of symptoms, most notably optic atrophy and intellectual disability. The syndrome was first described by Bosch, Boonstra, and Schaaf in 2014.

Symptoms and Signs

The primary symptom of BBSOAS is optic atrophy, a condition that leads to the degeneration of the optic nerves, resulting in vision loss. Other symptoms can include intellectual disability, developmental delay, and behavioral abnormalities. Some individuals with BOSOAS may also have seizures, muscle weakness, and abnormalities in brain structure.

Genetics

BBSOAS is caused by mutations in the NR2F1 gene. This gene provides instructions for making a protein that is involved in the development of the brain and eyes. The mutations that cause BBSOAS result in a reduction or absence of this protein, which disrupts normal development and leads to the symptoms of the syndrome.

Diagnosis

Diagnosis of BBSOAS is based on clinical features and confirmed by genetic testing. Magnetic resonance imaging (MRI) may also be used to identify abnormalities in brain structure.

Treatment

There is currently no cure for BBSOAS. Treatment is symptomatic and supportive, and may include physical therapy, special education, and medications to manage seizures.

Prognosis

The prognosis for individuals with BBSOAS varies. Some individuals may have mild symptoms and live independently, while others may require lifelong care.

See also

• Optic atrophy
• Intellectual disability
• Genetic disorder
• NR2F1

References

• Bosch, D. G., Boonstra, F. N., de Leeuw, N., Pfundt, R., Nillesen, W. M., de Ligt, J., ... & de Vries, B. B. (2014). Novel genetic causes for cerebral visual impairment. European journal of human genetics, 24(5), 660-665.

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