Living with Microphthalmia-brain atrophy syndrome
A rare genetic condition with very small eyes, blindness, and loss of brain tissue that leads to seizures and loss of skills.
Understanding Microphthalmia-brain atrophy syndrome
Babies are born with very small eyes (microphthalmia) and are blind. They also have a small head. Development is normal for the first 6 to 8 months of life and then declines steadily. Severe intellectual disability, increasing muscle stiffness, and seizures follow. Brain scans show progressive changes, including loss of white matter.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Very small eyeballs on both sides (microphthalmos)
- Blindness
- Smaller-than-average head size (microcephaly)
- Loss of skills already gained (developmental regression)
- Muscle stiffness (spasticity)
- 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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
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 rare disease patient organizations for support
- 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 genes (also called variants) cause this condition, and it is inherited in an autosomal recessive way. This means a child inherits a changed copy of the gene from each parent.
Also known as: mcops10; microphthalmia and brain atrophy; microphthalmia with brain atrophy syndrome; moba syndrome; syndromic microphthalmia type 10
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Microphthalmia-brain atrophy syndrome.
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