Overview
Achromatopsia (also called total color blindness or rod monochromatism) is a rare inherited eye condition where the cone cells in the retina — the part of the eye responsible for seeing color and fine detail in bright light — do not work properly or are absent. Because cones are needed to see color and to see clearly in daylight, people with achromatopsia cannot distinguish colors and have very poor central vision. The retina also contains rod cells, which handle vision in dim light, and these usually work normally in achromatopsia, meaning many people see better in low-light conditions than in bright ones. The main symptoms appear from birth or very early infancy and include extreme sensitivity to light (called photophobia), involuntary eye movements (nystagmus), very reduced sharpness of vision, and a complete or near-complete inability to see colors. Most people with achromatopsia see the world in shades of gray, black, and white. There is currently no cure for achromatopsia, but several supportive treatments can help manage symptoms. Tinted lenses, dark glasses, and special contact lenses can reduce light sensitivity and improve comfort. Low vision aids can help with daily tasks. Exciting gene therapy research is underway in clinical trials, offering hope for future treatments that may restore cone cell function.
Also known as:
Key symptoms:
Complete or near-complete inability to see colors (seeing only in shades of gray)Extreme sensitivity to bright light (photophobia)Involuntary, repetitive eye movements (nystagmus)Very poor sharpness of vision (low visual acuity, typically 20/200 or worse)Better vision in dim or low-light conditions than in bright lightDifficulty reading standard print without aidsSquinting or closing eyes in bright environmentsCentral vision loss or blurringDifficulty recognizing faces in bright lightPreference for shaded or indoor environments
Clinical phenotype terms (20)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
FDA & Trial Timeline
5 eventsBeacon Therapeutics — PHASE1, PHASE2
Beacon Therapeutics — PHASE1, PHASE2
STZ eyetrial — PHASE1, PHASE2
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Achromatopsia.
4 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Rare Disease Specialist
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Financial Resources
1 resourcesNAGLAZYME
BioMarin Pharmaceutical Inc.
NAGLAZYME Patient Support (BioMarin RareConnections)
Travel Grants
No travel grants are currently matched to Achromatopsia.
Community
No community posts yet. Be the first to share your experience with Achromatopsia.
Start the conversation →Latest news about Achromatopsia
Disease timeline:
New recruiting trial: Natural History Study of Inherited Retinal Diseases
A new clinical trial is recruiting patients for Achromatopsia
New recruiting trial: National Ophthalmic Genotyping and Phenotyping Network (eyeGENE (Registered Trademark)), Stage 3 - Expansion of DNA and Data Repositories for Rare Inherited Ophthalmic Diseases
A new clinical trial is recruiting patients for Achromatopsia
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Which gene mutation is causing achromatopsia in my child or myself, and what does that mean for other family members?,What type of tinted lenses or contact lenses would work best for managing light sensitivity?,Are there any gene therapy clinical trials that my child or I might be eligible for?,What low vision services and educational supports should we be accessing right now?,How often should we have eye exams, and what should we be monitoring over time?,What accommodations should I request at school or work?,Are there any support groups or patient communities you would recommend for people with achromatopsia?
Common questions about Achromatopsia
What is Achromatopsia?
Achromatopsia (also called total color blindness or rod monochromatism) is a rare inherited eye condition where the cone cells in the retina — the part of the eye responsible for seeing color and fine detail in bright light — do not work properly or are absent. Because cones are needed to see color and to see clearly in daylight, people with achromatopsia cannot distinguish colors and have very poor central vision. The retina also contains rod cells, which handle vision in dim light, and these usually work normally in achromatopsia, meaning many people see better in low-light conditions than i
How is Achromatopsia inherited?
Achromatopsia follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Achromatopsia typically begin?
Typical onset of Achromatopsia is neonatal. Age of onset can vary across affected individuals.
Are there clinical trials for Achromatopsia?
Yes — 4 recruiting clinical trials are currently listed for Achromatopsia on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Achromatopsia?
25 specialists and care centers treating Achromatopsia are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.
What treatment and support options exist for Achromatopsia?
1 patient support program are currently tracked on UniteRare for Achromatopsia. See the treatments and support programs sections for copay assistance, eligibility, and contact details.