How is Bosch-Boonstra-Schaaf optic atrophy syndrome inherited?

Bosch-Boonstra-Schaaf optic atrophy syndrome follows an autosomal dominant inheritance pattern. This means inheriting just one copy of the altered gene from either parent can cause the condition.

How rare is Bosch-Boonstra-Schaaf optic atrophy syndrome?

Bosch-Boonstra-Schaaf optic atrophy syndrome is classified as very rare. The estimated prevalence is approximately <1 in 1,000,000. Because rare disease data can be limited, actual numbers may differ from published estimates.

How is Bosch-Boonstra-Schaaf optic atrophy syndrome diagnosed?

Information about diagnosis is currently limited for this condition.

Are there treatments for Bosch-Boonstra-Schaaf optic atrophy syndrome?

Information about treatment is currently limited for this condition.

What are the common complications associated with Bosch-Boonstra-Schaaf optic atrophy syndrome?

People with Bosch-Boonstra-Schaaf optic atrophy syndrome may face several complications. These can include significant visual impairment due to optic nerve issues, developmental delays, and intellectual disabilities. Additionally, some individuals may experience low muscle tone, seizures, and challenges with oral motor functions, which can affect daily activities.

How does Bosch-Boonstra-Schaaf optic atrophy syndrome affect daily life?

Living with Bosch-Boonstra-Schaaf optic atrophy syndrome can be challenging due to its impact on vision and development. Individuals may need support for daily tasks, especially if they have difficulties with motor skills or communication. Families often work with specialists to create strategies that help with learning and managing symptoms.

What is the life expectancy for someone with Bosch-Boonstra-Schaaf optic atrophy syndrome?

Currently, there is limited information about the life expectancy of individuals with Bosch-Boonstra-Schaaf optic atrophy syndrome. The condition can vary greatly from person to person, and the presence of other symptoms may influence overall health. It's important for families to work closely with healthcare providers to monitor health and development.

What kind of specialists should we consult for Bosch-Boonstra-Schaaf optic atrophy syndrome?

For Bosch-Boonstra-Schaaf optic atrophy syndrome, it is helpful to consult a team of specialists. This may include a pediatrician, a neurologist for developmental and seizure management, and an ophthalmologist for vision issues. Working with a developmental specialist can also provide support for learning and behavioral challenges.

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Bosch-Boonstra-Schaaf optic atrophy syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

Bosch-Boonstra-Schaaf optic atrophy syndrome

MONDO:0014320

Also known as:BBSOASoptic atrophy-intellectual disability syndrome

Overview

Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific.

GeneticsAutosomal dominant · NR2F1 (chr 5)

OnsetNEONATAL

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Optic disc pallor; and common findings: Low muscle tone (hypotonia), Reduced visual acuity, Intellectual disability, and Feeding difficulties and others. 51 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	9	Strabismus, Nystagmus, Cerebral visual impairment

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

NR2F1 encodes nuclear receptor subfamily 2 group F member 1 (423 aa). Coup (chicken ovalbumin upstream promoter) transcription factor binds to the ovalbumin promoter and, in conjunction with another protein (S300-II) stimulates initiation of transcription. Highest expression in Fallopian Tube (139.3 TPM) and Cervix Endocervix (119.7 TPM).

Bosch-Boonstra-Schaaf optic atrophy syndrome is caused by mutations in the NR2F1 gene on chromosome 5.

NR2F1 is classified as a druggable target (Druggable Genome, Nuclear Hormone Receptor, and Transcription Factor categories) with score 0.0.

GeneReviews

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

No consensus clinical diagnostic criteria for NR2F1-related neurodevelopmental disorder (NR2F1-NDD) have been published.

Suggestive Findings

NR2F1-NDD should be considered in probands with the following clinical and brain MRI findings. Clinical findings

Source: GeneReviews — "NR2F1-Related Neurodevelopmental Disorder"

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for Bosch-Boonstra-Schaaf optic atrophy syndrome. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for NR2F1-related neurodevelopmental disorder (NR2F1-NDD) have been published. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with NR2F1-NDD, the evaluations summarized (if not performed as part of the evaluation that led to diagnosis) are recommended. Table 4. Recommended Evaluations Following Initial Diagnosis in Individuals with NR2F1-Related Neurodevelopmental Disorder

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

See for recommendations to monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations. Table 6. Recommended Surveillance for Individuals with NR2F1-Related Neurodevelopmental Disorder

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for Bosch-Boonstra-Schaaf optic atrophy syndrome.

109 publications have been identified in PubMed for Bosch-Boonstra-Schaaf optic atrophy syndrome. Kisho has analyzed 33 by research type. Research spans Case Report / Case Series (27%), Basic Science / Preclinical (27%), and Review / Meta-Analysis (24%).

Research Type	Count	% of Total
Patient case studies	9	27%

Data assembled from 8 of 12 sources · Last updated Sep 19, 2026, 1:11 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615722

Orphanet

European rare disease database

Orphanet:401777

GARD

Genetic and Rare Diseases Info Center

GARD:12903

Questions for Your Care Team

→Should I pursue genetic testing for NR2F1, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

FAQ

Frequently Asked Questions

Common questions about Bosch-Boonstra-Schaaf optic atrophy syndrome

Bosch-Boonstra-Schaaf optic atrophy syndrome is a rare, inherited condition that affects development and vision. People with this condition often experience developmental delays and intellectual disability along with significant visual impairment. The visual challenges are mainly due to issues with the optic nerves, which can include optic nerve atrophy, optic nerve hypoplasia, or problems with how the brain processes vision. In addition to vision and developmental challenges, people with this condition may also experience other symptoms like low muscle tone (hypotonia), difficulties with oral motor functions, seizures, and behaviors associated with autism spectrum disorder. The facial features can be unusual, but these changes can vary greatly from one person to another. This summary is based on the definition provided by trusted sources.

Common symptoms include developmental delays, intellectual disability, and marked visual impairment. Visual problems arise from optic nerve issues such as atrophy, hypoplasia, or cerebral visual impairment. Other symptoms that may be seen include hypotonia, oromotor dysfunction, seizures, autism spectrum related behaviors, and repetitive behaviors. People with this condition may also have variable and nonspecific dysmorphic facial features.

Bosch-Boonstra-Schaaf optic atrophy syndrome is hereditary and is linked to changes in the NR2F1 gene. This gene plays a role in normal development, and mutations can lead to the wide range of symptoms seen in this condition. Associated genes include NR2F1.

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System/Concern	Evaluation	Comment
Neurologic	Neurologic eval	To incl brain MRI; Consider EEG if seizures are a concern.
Development	Developmental assessment	To incl motor, adaptive, cognitive, speech-language eval; Eval for early intervention/ special education Ophthalmologic/ Vision
impairment	Ophthalmologic eval	To assess for visual acuity, refractive errors, abnormal ocular movement (incl strabismus nystagmus); Eval for optic nerve abnormalities (optic atrophy optic nerve hypoplasia) CVI, which may require subspecialty referral Gastrointestinal/
Feeding	Gastroenterology/ nutrition/ feeding team eval	Infants may have problems w/poor latch/suck.; Older children may have trouble chewing swallowing, incl mouth overstuffing /or food pocketing.; To incl eval of aspiration risk nutritional status; Consider eval for gastrostomy tube placement in those w/dysphagia /or aspiration risk.
Speech delay	By speech-language pathologist	Psychiatric/
Behavioral	Mental health eval	Persons age 12 mos: screen for behavior concerns incl sleep disturbances, ADHD, anxiety, /or traits suggestive of ASD.; Use of ADI®-R ADOS®
Musculoskeletal	Orthopedics/ physical medicine rehab/ PT OT eval	To incl assessment of:; Gross motor fine motor skills; Mobility, ADL, need for adaptive devices; Need for PT (to improve gross motor skills) /or OT (to improve fine motor skills)
Hearing	Audiologic eval	Assess for hearing loss. Genetic
counseling	By genetics professionals1	To obtain a pedigree inform affected persons their families re nature, MOI, implications of NR2F1-NDD to facilitate medical personal decision making Family support resources
Treatment of Manifestations in Individuals with NR2F1-Related Neurodevelopmental Disorder Manifestation/Concern	Treatment	Considerations/Other Developmental delay/
Intellectual disability	See .	—
Epilepsy	Standardized treatment w/ASM by experienced neurologist	Many ASMs may be effective; none has been demonstrated effective specifically for this disorder.; Education of parents/caregivers1 Poor weight gain/ Failure to thrive
Spasticity	Orthopedics/ physical medicine rehab/ PT OT incl stretching to help avoid contractures falls	Consider need for positioning mobility devices, disability parking placard.
Ophthalmologic involvement	Per ophthalmologist	Treatment of refractive errors /or strabismus Low-vision services
Cerebral visual impairment	Visual therapy focused on CVI	Early intervention program to stimulate visual development
Hearing	Hearing aids may be helpful per otolaryngologist.	Community hearing services through early intervention or school district Bowel dysfunction

Kisho

Bosch-Boonstra-Schaaf optic atrophy syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Clinical Guidance

Explore clinical features

Clinical Guidance

Differential Diagnosis

NGLY1

Therapies Under Investigation

Clinical Trials

Recent Publications

Latest News & Developments

A de novo NR2F1 c.330 C > A variant in Bosch-Boonstra-Schaaf optic atrophy syndrome presenting with early-onset developmental and epileptic encephalopathy.

Bosch-Boonstra-Schaaf optic atrophy syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is Bosch-Boonstra-Schaaf optic atrophy syndrome?

What are the symptoms of Bosch-Boonstra-Schaaf optic atrophy syndrome?

What causes Bosch-Boonstra-Schaaf optic atrophy syndrome?

How is Bosch-Boonstra-Schaaf optic atrophy syndrome inherited?

How rare is Bosch-Boonstra-Schaaf optic atrophy syndrome?

How is Bosch-Boonstra-Schaaf optic atrophy syndrome diagnosed?

Are there treatments for Bosch-Boonstra-Schaaf optic atrophy syndrome?

What are the common complications associated with Bosch-Boonstra-Schaaf optic atrophy syndrome?

How does Bosch-Boonstra-Schaaf optic atrophy syndrome affect daily life?

What is the life expectancy for someone with Bosch-Boonstra-Schaaf optic atrophy syndrome?

What kind of specialists should we consult for Bosch-Boonstra-Schaaf optic atrophy syndrome?

Clinical Guidance

Explore clinical features

Clinical Guidance

Differential Diagnosis

NGLY1

Therapies Under Investigation

Clinical Trials

Recent Publications

Latest News & Developments

A de novo NR2F1 c.330 C > A variant in Bosch-Boonstra-Schaaf optic atrophy syndrome presenting with early-onset developmental and epileptic encephalopathy.