Living with Achromatopsia 3
A condition that affects color vision and sharpness, with sensitivity to bright light and shaky eye movements.
Understanding Achromatopsia 3
People have back-and-forth eye movements (nystagmus), sensitivity to light, a small central blind spot, and reduced or complete loss of color vision. Most have complete achromatopsia, where all three cone types do not work. Rarely, one or more cone types partly work, which is less severe. Farsightedness is common. Vision is usually stable over time.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Color blindness or no color vision
- Sensitivity to light (photophobia)
- Back-and-forth eye movements (nystagmus)
- Reduced visual acuity
- Severe nearsightedness
- Cataract
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
GARD describes this condition as autosomal recessive, so a child inherits a changed copy of the gene from each parent. It doesn't list a specific gene in this record.
Also known as: achm1; achm3; achromatopsia caused by mutation in cngb3; achromatopsia type 3; achromatopsia with myopia; cngb3 achromatopsia
Patient organizations
- Foundation Fighting BlindnessAchromatopsia 3 · United States
You are more than your diagnosis
Perspectives from people navigating life with Achromatopsia 3.
Explore research for Achromatopsia 3
Explore actively recruiting Achromatopsia 3 studies with HealthSpark.
Find actively recruiting studies for Achromatopsia 3 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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