BBSOAS QT V AMI X KRSNA OSCE CARD

A Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS) is a rare genetic disorder resulting from mutations in the NR2F1 gene, which plays a crucial role in neurodevelopment. citeturn0search0 The condition is inherited in an autosomal dominant manner, meaning a single copy of the mutated gene can cause the syndrome. citeturn0search1 **Key Characteristics:** - **Visual Impairment:** Individuals often experience optic nerve atrophy, leading to decreased visual acuity. Other ocular abnormalities may include optic nerve hypoplasia and cortical visual impairment. citeturn0search0 - **Developmental Delays and Intellectual Disability:** Affected individuals typically present with developmental delays and varying degrees of intellectual disability. citeturn0search1 - **Hypotonia:** Reduced muscle tone is commonly observed. citeturn0search0 - **Oromotor Dysfunction:** Challenges with speech and feeding due to oromotor dysfunction are frequently reported. citeturn0search0 - **Facial Features:** Some individuals may exhibit mild and inconsistent dysmorphic facial features. citeturn0search0 - **Seizures and Autism Spectrum Disorder:** Some individuals may experience seizures or exhibit behaviors consistent with autism spectrum disorder. citeturn0search6 **Prevalence:** As of 2022, there are approximately 200 known cases of BBSOAS worldwide, with diagnoses increasing as awareness grows. citeturn0search1 **Management:** Currently, there is no cure for BBSOAS. Management focuses on early intervention and supportive therapies to improve quality of life. This includes regular comprehensive eye examinations, developmental therapies (such as physical, occupational, and speech therapy), and educational support tailored to individual needs. citeturn0search1 **Prognosis:** While BBSOAS presents significant challenges, early and appropriate interventions can enhance development and quality of life. The severity and combination of symptoms can vary widely among individuals, making personalized care essential. citeturn0search1 For more detailed information and resources, the NR2F1 Foundation offers support and guidance to affected individuals and families. citeturn0search0

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