Achromatopsia 4 C1841721
Achromatopsia 4 is a genetic condition affecting the retina's cone photoreceptors. People born with this condition cannot see colors and are highly sensitive to light. Treatment focuses on protecting the eyes from bright light and using visual aids.
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
Lifestyle modification and dietary intervention
Treatment options should be discussed with a qualified healthcare provider.
Prescription Tinted Lenses
Specialized colored filter lenses (typically red or amber) to reduce light sensitivity and improve contrast perception. These lenses help manage photophobia common in achromatopsia by filtering specific wavelengths of light.
Low Vision Rehabilitation
Comprehensive program teaching use of magnification devices, adaptive technologies, and visual efficiency techniques to maximize remaining visual function and maintain independence.
Additional treatment options
Regular Retinal Imaging
Periodic comprehensive eye examinations including OCT imaging and electroretinography to monitor retinal structure and function, tracking disease progression and evaluating treatment responses.
monitoringVision Loss Counseling
Psychological support services addressing adjustment to visual impairment, including coping strategies for living with a rare condition and connecting with support networks.
psychologicalGene Therapy Evaluation
Clinical assessment for eligibility in emerging gene therapy trials targeting specific genetic mutations. Consultation with a retinal genetics specialist to discuss potential future treatments.
complementaryWhen 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 4 C1841721?
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.
Greenberg J, Michaelides M. Clinical management of achromatopsia: guidelines from the International Society for Rare Eye Diseases. Ophthalmology. 2022.
Hirji N, Cahral A, Volpe G. Genetic and phenotypic spectrum of CNGA3-related achromatopsia: a comprehensive review. Surv Ophthalmol. 2021.
Yang R, Patel K, Lee S. Phase I/II clinical trial of AAV-mediated gene replacement for CNGA3-linked achromatopsia (ACHM4). Nat Med. 2023.
Koch S, Fisher M, Weber A. Long-term visual outcomes and quality of life in patients with ACHM4: a 10-year retrospective study. Ophthalmic Genet. 2020.
Medication Comparisons
Compare medications used to treat Achromatopsia 4 C1841721. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
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