Living with Achromatopsia
A condition that affects color vision and sharpness, with sensitivity to light and shaky eye movements.
Understanding Achromatopsia
People with complete achromatopsia see only black, white, and shades of gray. People with incomplete achromatopsia can see some color. They may also have sensitivity to light and glare, involuntary back-and-forth eye movements (nystagmus), and reduced sharpness of vision. Farsightedness or nearsightedness is possible. It is different from common color blindness. GARD lists onset as the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- No or reduced color vision (monochromacy)
- Reduced sharpness of vision
- Sensitivity to light (photophobia)
- Back-and-forth eye movements (nystagmus)
- Small blind spot in the center of vision
- Nearsightedness or farsightedness
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.
- 4Connect with expert centers
BCM Families Foundation and Foundation Fighting Blindness may keep lists of experts for this condition.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: BCM Families Foundation, 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 BCM Families Foundation and other patient organizations
- 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 (also called variants) cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: achm; achromatism; complete or incomplete color blindness; complete or incomplete colour blindness; monochromatism; pingelapese blindness
Patient organizations
- BCM Families FoundationAchromatopsia · United States
- Foundation Fighting BlindnessAchromatopsia · United States
You are more than your diagnosis
Perspectives from people navigating life with Achromatopsia.
Explore research for Achromatopsia
Explore actively recruiting Achromatopsia studies with HealthSpark.
Find actively recruiting studies for Achromatopsia 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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