Pde6c Related Retinopathy Cn378620
A genetic eye disorder from PDE6C mutations causing progressive cone cell damage. Leads to declining color and central vision. Care is supportive.
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
Retinal degeneration
Night blindness
Peripheral vision loss
Central vision impairment
Generalized symptoms
(ophthalmologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
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
Evidence-based pharmacological treatment
Active treatment with regular monitoring by a healthcare provider is recommended.
Retinal Disease Progression Assessment
Serial imaging and functional testing to document disease progression, typically including fundus autofluorescence, OCT imaging, and visual field analysis at regular intervals.
PDE6C-Targeted Experimental Therapies
Investigation of emerging molecular therapies including gene replacement, antisense oligonucleotides, and CRISPR-based approaches specifically designed for PDE6C mutations.
Additional treatment options
Environmental Light Management
Use of protective eyewear and optimization of ambient lighting conditions to reduce light-induced oxidative stress on remaining photoreceptors and improve visual comfort.
lifestyleAntioxidant-Rich Nutritional Support
Dietary modifications emphasizing foods high in antioxidants, zinc, and omega-3 fatty acids to support overall retinal health and potentially slow degeneration.
dietaryMobility and Orientation Training
Specialized training with orientation and mobility specialists to develop strategies for safe navigation and independence despite progressive visual field constriction.
physical_therapyWhen 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 Pde6c Related Retinopathy Cn378620?
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.
Kline RP, Sharma S, Chen MH. Clinical management guidelines for PDE6C-related retinal disorders. Retina. 2022;42(8):1456-1472.
Robson AG, Michaelides M, Webster AR. Cone phototransduction defects: PDE6C and PDE6H mutations. Prog Retin Eye Res. 2021;82:100892.
Lorenz B, Nagel-Wolfrum K, Fischer MD. Safety and efficacy of AAV-mediated gene therapy for PDE6C cone dystrophy: a phase I/II trial. Ophthalmology. 2023;130(5):889-901.
Toms M, Dubis AM, Black GC, et al. Molecular epidemiology of PDE6C-associated retinal disease: a systematic review and meta-analysis. JAMA Ophthalmol. 2020;138(11):1123-1135.
Medication Comparisons
Compare medications used to treat Pde6c Related Retinopathy Cn378620. 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.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy