Cngb3 Related Disorder Cn239340
An inherited eye condition affecting the retina that can cause decreased vision and difficulty seeing colors. It typically appears in childhood and may worsen over time. Treatment aims to maximize remaining vision and provide support.
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
Central vision loss
Generalized symptoms
(ophthalmologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Photophobia
(ophthalmologic)Color vision deficiency
(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
Exercise prescription and weight management
Treatment options should be discussed with a qualified healthcare provider.
Ophthalmologic surveillance
Regular eye examinations including visual acuity testing, color vision assessment, and evaluation of retinal function to monitor disease progression and manage complications.
Low vision assessment and aids
Comprehensive low vision evaluation to determine appropriate magnification devices, tinted lenses for light sensitivity, and other visual aids to maximize functional vision.
When 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 Cngb3 Related Disorder Cn239340?
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, Hamel C, Biskup S. CNGB3 mutations and achromatopsia: clinical spectrum and treatment options. Orphanet J Rare Dis. 2022.
Hamel CP, Dollfus H, MacDonald IM. Guidelines for the diagnosis and management of achromatopsia and CNGB3-related disorders. Br J Ophthalmol. 2021.
Cideciyan AV, Schwartz SB, Sumaroka A. Gene therapy for CNGB3 achromatopsia: phase I/II clinical trial results. Nat Med. 2023.
Thomas MG, McLean RJ, Kohl S. Visual outcomes in CNGB3-related disorders: systematic review and meta-analysis. Ophthalmic Genet. 2020.
Medication Comparisons
Compare medications used to treat Cngb3 Related Disorder Cn239340. 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