Overview
Microphthalmia-brain atrophy syndrome is a very rare genetic condition that affects both the eyes and the brain. 'Microphthalmia' means that one or both eyes are abnormally small, which can cause serious vision problems or even blindness. Along with small eyes, people with this syndrome also experience brain atrophy, which means parts of the brain shrink or do not develop properly over time. This leads to problems with thinking, learning, and movement. The condition is present from birth, though some features may become more noticeable as a child grows. Key symptoms include small or underdeveloped eyes, intellectual disability, delayed development of skills like walking and talking, and muscle tone problems. Seizures may also occur in some individuals. Brain imaging often shows visible changes in brain structure. There is currently no cure for microphthalmia-brain atrophy syndrome. Treatment focuses on managing symptoms and supporting development. This may include special education programs, physical therapy, occupational therapy, vision support, and medications to control seizures if they occur. A team of specialists is usually needed to provide the best care.
Also known as:
Key symptoms:
Abnormally small eyes (one or both)Reduced or absent visionBrain shrinkage (brain atrophy) visible on scansIntellectual disabilityDelayed speech and language developmentDelayed motor milestones such as sitting and walkingLow or abnormal muscle toneSeizuresSmall head size (microcephaly) in some casesFeeding difficulties in infancy
Clinical phenotype terms (20)— hover any for plain English
X-linked recessive
Carried on the X chromosome; typically affects males more than females
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Microphthalmia-brain atrophy syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Microphthalmia-brain atrophy syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Microphthalmia-brain atrophy syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Microphthalmia-brain atrophy syndrome.
Community
No community posts yet. Be the first to share your experience with Microphthalmia-brain atrophy syndrome.
Start the conversation →Latest news about Microphthalmia-brain atrophy syndrome
No recent news articles for Microphthalmia-brain atrophy syndrome.
Follow this condition to be notified when news becomes available.
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What genetic testing do you recommend to confirm the diagnosis, and should other family members be tested?,What therapies should we start right away to support my child's development?,How often should my child see an eye specialist, and what vision supports are available?,What are the signs that my child's condition may be getting worse, and when should I seek emergency care?,Are there any clinical trials or research studies we could participate in?,What educational supports should we ask for at school?,What does the long-term outlook look like, and what kind of support will my child need as an adult?
Common questions about Microphthalmia-brain atrophy syndrome
What is Microphthalmia-brain atrophy syndrome?
Microphthalmia-brain atrophy syndrome is a very rare genetic condition that affects both the eyes and the brain. 'Microphthalmia' means that one or both eyes are abnormally small, which can cause serious vision problems or even blindness. Along with small eyes, people with this syndrome also experience brain atrophy, which means parts of the brain shrink or do not develop properly over time. This leads to problems with thinking, learning, and movement. The condition is present from birth, though some features may become more noticeable as a child grows. Key symptoms include small or underdeve
How is Microphthalmia-brain atrophy syndrome inherited?
Microphthalmia-brain atrophy syndrome follows a x-linked recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Microphthalmia-brain atrophy syndrome typically begin?
Typical onset of Microphthalmia-brain atrophy syndrome is neonatal. Age of onset can vary across affected individuals.