Living with Bosch-Boonstra-Schaaf optic atrophy syndrome
A rare genetic condition that affects the brain and vision, with developmental delay and intellectual disability.
Understanding Bosch-Boonstra-Schaaf optic atrophy syndrome
It starts in newborns. It involves developmental delay and intellectual disability, and vision can be affected by damage to the optic nerve or the brain's visual system. Common features include weak muscle tone, difficulty moving the mouth and tongue, seizures, autism spectrum disorder, and repetitive behaviors.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delays in development
- Intellectual disability
- Optic nerve damage (optic atrophy)
- Reduced sharpness of vision
- Low muscle tone
- Seizures
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in NR2F1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with NR2F1 Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the NR2F1 gene cause this condition. It is autosomal dominant, so one changed copy of the gene is enough.
Also known as: bbsoas; bbsoas - bosch boonstra schaaf optic atrophy syndrome; bosch boonstra schaaf optic atrophy syndrome; optic atrophy-intellectual disability syndrome; optic atrophy, intellectual disability syndrome
Patient organizations
- NR2F1 FoundationBosch-Boonstra-Schaaf optic atrophy syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Bosch-Boonstra-Schaaf optic atrophy syndrome.
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