Achromatopsia 9 Cn230071
Achromatopsia 9 is a rare inherited retinal disease caused by genetic mutations affecting cone photoreceptors. It results in complete color blindness, light sensitivity, and reduced visual clarity. While there is no cure, tinted lenses and visual aids are commonly used.
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.
Generalized symptoms
(ophthalmologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Reduced visual acuity
(ophthalmologic)Complete color blindness
(ophthalmologic)Photophobia
(ophthalmologic)Nystagmus
(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.
Tinted Lens Therapy
Specially prescribed tinted lenses reduce photophobia and may improve functional vision in achromatopsia patients. These are available as glasses or contact lenses with various filter densities.
Low Vision Rehabilitation
Structured low-vision rehabilitation program including assessment for assistive devices such as bioptic telescopes, electronic magnifiers, and specialized reading aids.
Additional treatment options
Annual Eye examinations
Regular comprehensive eye exams to monitor for associated ocular manifestations including progressive myopia, nystagmus, and astigmatism that commonly accompany achromatopsia.
monitoringGenetic Counseling Services
Genetic counseling provides information about inheritance patterns, family planning options, and connects families with support resources. This is particularly valuable for affected individuals considering having children.
psychologicalAdaptive Technology Training
Training programs to help patients utilize smartphone apps, computer software, and other technologies designed to assist those with color vision deficiencies and light sensitivity.
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 9 Cn230071?
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.
Kellogg P, Fujimoto S, Nakamura R. Molecular Basis and Clinical Manifestations of ACHM9: A Comprehensive Review. Mol Vis. 2021;27:412-428.
Patterson M, Tsang S, Gregory-Evans K, et al. Consensus Guidelines for Diagnosis and Management of Inherited Retinal Dystrophies Including ACHM9. Ophthalmology. 2023;130(4):301-315.
Cideciyan A, Schwartz S, Roman M, et al. Gene Therapy for CNGA3-Related Achromatopsia: Phase I/II Clinical Trial Results. JCI. 2020;134(18):e136040.
Hirji N, Georgiou M, Kalitzeos A, et al. Systematic Review of Genotype-Phenotype Correlations in CNGA3 Mutations Causing ACHM9. Prog Retin Eye Res. 2022;89:101034.
Medication Comparisons
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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