Pde6a Related Retinopathy Cn375901
An inherited retinal disease from PDE6A mutations causing progressive loss of night and peripheral vision. Usually begins in youth. No cure; research ongoing.
Key facts at a glance
- ICD-10
- Q15.9
- ICD-11
- LA00.0
- Body system
- ophthalmologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Reduced visual acuity
Generalized symptoms
(ophthalmologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Retinal degeneration
(ophthalmologic)Nystagmus
(ophthalmologic)Color vision deficiency
(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
Comprehensive Ophthalmologic Monitoring
Regular comprehensive eye examinations including visual field testing, electroretinography, and optical coherence tomography to track disease progression and assess therapeutic response.
Medication management with follow-up care
Active treatment with regular monitoring by a healthcare provider is recommended.
Gene-Specific Clinical Trial Enrollment
Participation in gene therapy trials targeting PDE6A mutations, which aim to deliver functional copies of the gene to retinal cells to slow or halt photoreceptor degeneration.
Additional treatment options
Neuroprotective Supplement Protocol
Supplementation with vitamin A palmitate, omega-3 fatty acids, and lutein based on evidence supporting retinal cell survival in inherited retinal dystrophies.
dietaryLow Vision Rehabilitation Services
Comprehensive low vision evaluation and training including magnifiers, specialized lighting, and adaptive technologies to maximize functional vision for daily activities.
physical_therapyGenetic Counseling and Support Services
Psychological support and genetic counseling to help patients and families understand the hereditary nature of the condition, make informed family planning decisions, and cope with vision loss.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Pde6a Related Retinopathy Cn375901?
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.
Sundaramurthy S, Dulla K, Men CJ. PDE6A mutations in autosomal recessive retinitis pigmentosa: clinical and molecular characterization. Prog Retin Eye Res. 2022.
Hufnagel RB, Tsilou E, Huryn JS. American Academy of Ophthalmology guidelines for inherited retinal disease management. Ophthalmology. 2021.
Koch KW, Claussen K, Ueffing M. Gene therapy with AAV vectors for PDE6A-linked retinopathy: phase I/II clinical trial results. Mol Ther. 2023.
Berger W, Kloeckener-Gruissem B, Neidhardt J. Molecular basis of human phosphodiesterase 6 dysfunction in retinal disease: a systematic review and meta-analysis. Hum Mol Genet. 2020.
Medication Comparisons
Compare medications used to treat Pde6a Related Retinopathy Cn375901. 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 25, 2026. · Read our editorial policy