Achromatopsia 3 C1849792
Achromatopsia 3 is a rare inherited eye disorder affecting the cone cells in the retina. It causes complete color blindness, extreme light sensitivity, and reduced visual acuity from birth. Management includes tinted lenses, special filters, and low-vision aids to improve daily functioning.
Key facts at a glance
- ICD-10
- Q15.9
- ICD-11
- LA00.0
- Body system
- ophthalmologic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Severe visual impairment (20/200 or worse)
Complete color blindness (achromatopsia)
(ophthalmologic)Generalized symptoms
(ophthalmologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Photophobia (light sensitivity)
(ophthalmologic)Nystagmus (involuntary eye movements)
(ophthalmologic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Prescription tinted lenses
Specialty colored filters in glasses or contact lenses reduce light sensitivity and may improve contrast perception for some patients with achromatopsia. Different colors may be trialed to find optimal visual comfort.
Photophobia management strategies
Using wide-brimmed hats, visors, and avoiding bright environments minimizes photophobia and improves visual comfort during daily activities. Environmental modifications at home, school, and work can reduce symptoms.
Additional treatment options
Low vision support services
Counseling and support groups help address the psychosocial impact of achromatopsia, including educational support for children and vocational guidance for adults managing this lifelong condition.
psychologicalLow vision aids and assistive technology
Magnifiers, specialized lighting, and digital assistive devices help with reading and daily tasks despite reduced visual acuity. Technology continues to advance with apps designed for visually impaired users.
lifestyleOphthalmologic surveillance
Regular comprehensive eye examinations monitor visual function, assess for associated conditions like nystagmus or strabismus, and evaluate effectiveness of current management strategies.
monitoringWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Achromatopsia 3 C1849792?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Kohl S, Weisschuh N, Zobor D. Molecular genetics of achromatopsia: current understanding and therapeutic implications. Surv Ophthalmol. 2022.
Moore BA, Lorenz B, Michaelides M. European consensus guidelines for the diagnosis and management of achromatopsia. Orphanet J Rare Dis. 2021.
Hirji N, Georgiou M, Kalitzeos A. Safety and efficacy of gene therapy for CNGA3-linked achromatopsia: a phase 1/2 trial. Nat Med. 2023.
Weiss S, Langmann T, Wissinger B. Clinical phenotype and genotype spectrum of CNGA3-associated achromatopsia: systematic review and meta-analysis. Ophthalmology. 2020.
Medication Comparisons
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This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy