Living with Congenital achiasma
A rare genetic eye and nerve condition from birth in which the optic nerves do not cross, affecting vision and eye movement.
Understanding Congenital achiasma
The optic nerve fibers do not cross to the opposite side of the brain. This leads to decreased vision, eyes that do not line up (strabismus) and shaky eye movements (nystagmus) in infancy. It occurs on its own rather than as part of a syndrome.
Signs & symptoms
Symptoms vary from person to person. GARD's summary lists:
- Decreased vision
- Eyes that do not line up (strabismus)
- Shaky eye movements (congenital nystagmus)
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 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); 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
GARD says changes in genes cause this condition, but doesn't list a specific gene or inheritance pattern.
Also known as: congenital absence of optic chiasma
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 achiasma.
Explore research for Congenital achiasma
Explore actively recruiting Congenital achiasma studies with HealthSpark.
Find actively recruiting studies for Congenital achiasma 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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