Living with Congenital miosis
A rare eye condition present from birth in which the pupils are very small and do not widen well.
Understanding Congenital miosis
The muscles that widen the pupil are missing or underdeveloped. Pupils are smaller than 2 millimeters and widen poorly or not at all, even with dilating eye drops. It is often linked with nearsightedness and with glaucoma (high eye pressure that can harm vision) in childhood or early adulthood. It is noticed in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small pupils that do not widen well
- Nearsightedness (axial myopia)
- Astigmatism
- Sensitivity to light (photophobia)
- Open-angle glaucoma
- High eye pressure (ocular hypertension)
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
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
When not part of a syndrome, it is caused by a small missing piece of genetic material at chromosome region 13q32. Researchers are still studying which gene there is responsible. It is autosomal dominant, so one changed copy can be enough. It also occurs in Pierson syndrome, caused by changes in the LAMB2 gene.
Also known as: chromosome 13q32 deletion syndrome; congenital microcoria; mcor; microcoria, congenital
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 Congenital miosis.
Explore research for Congenital miosis
Explore actively recruiting Congenital miosis studies with HealthSpark.
Find actively recruiting studies for Congenital miosis with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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