Living with Microphthalmia with brain and digit anomalies
A rare inherited condition with small or missing eyes, other eye differences, and sometimes brain differences or extra fingers.
Understanding Microphthalmia with brain and digit anomalies
People have small or missing eyeballs (microphthalmia or anophthalmia), retinal disease, or nearsightedness. Some also have differences in the brain, and extra fingers (polydactyly) can occur. GARD says it has been described in two families. Signs begin during pregnancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small eyeballs (microphthalmia)
- Missing eyeballs (anophthalmia)
- Gap in the retina layer (chorioretinal coloboma)
- Gap in the colored part of the eye (iris coloboma)
- Clouding of the lens (cataract)
- Small corneas (microcornea)
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 BMP4 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 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
This condition is caused by changes in the BMP4 gene. It is autosomal dominant, which means a changed copy of the gene from one parent can be enough to cause it.
Also known as: bakrania ragge syndrome; bakrania-ragge syndrome; mcops6; microphthalmia and pituitary anomalies; microphthalmia with brain and digit anomaly; microphthalmia, syndromic 6
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 with brain and digit anomalies.
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