Living with Syndromic microphthalmia type 5
A genetic condition with very small or missing eyes and retina differences, sometimes with developmental delay.
Understanding Syndromic microphthalmia type 5
Eye differences range from missing eyes (anophthalmia) to small eyes (microphthalmia) and retina differences. Development may be delayed to varying degrees, and some people have brain differences. Signs may begin during pregnancy or in the newborn period.
Signs & symptoms
GARD lists only less common symptoms. The summary describes:
- Very small or missing eyes
- Retina differences
- Delayed development
- Brain differences
- Cleft palate (less common)
- Short stature (less common)
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 eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in OTX2 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
- 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 the OTX2 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can cause it.
Also known as: mcops5; microphthalmia, syndromic type 5; otx2 syndromic microphthalmia; retinal dystrophy, early-onset, with pituitary dysfunction; retinal dystrophy, early-onset, without pituitary dysfunction; syndromic microphthalmia caused by mutation in otx2
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 Syndromic microphthalmia type 5.
Explore research for Syndromic microphthalmia type 5
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