Living with Achromatopsia 2
A condition that affects color vision, caused by changes in the CNGA3 gene.
Understanding Achromatopsia 2
Most people have complete achromatopsia, with no color vision, only black, white, and shades of gray. Some have incomplete achromatopsia with some color discrimination. Other common symptoms are reduced sharpness of vision, involuntary back-and-forth eye movements, sensitivity to light, and farsightedness.
Signs & symptoms
GARD doesn't list a symptom list for this condition yet. The summary describes these features:
- No or reduced color vision
- Reduced sharpness of vision
- Back-and-forth eye movements (nystagmus)
- Sensitivity to light (photophobia)
- Farsightedness (hyperopia)
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Foundation Fighting Blindness may keep lists of experts for this condition.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Expert lists: Foundation Fighting Blindness
- 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 Foundation Fighting Blindness
- 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 CNGA3 gene cause this condition. It is inherited in an autosomal recessive manner, so a child inherits a changed copy of the gene from each parent.
Also known as: achm2; achromatopsia caused by mutation in cnga3; achromatopsia type 2; cnga3 achromatopsia; colorblindness, total; rmch2
Patient organizations
- Foundation Fighting BlindnessAchromatopsia 2 · United States
You are more than your diagnosis
Perspectives from people navigating life with Achromatopsia 2.
Explore research for Achromatopsia 2
Explore actively recruiting Achromatopsia 2 studies with HealthSpark.
Find actively recruiting studies for Achromatopsia 2 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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