Prph2 Related Disorder Cn239395
This genetic condition affects the retina and can cause progressive vision loss. It includes various retinal dystrophies that may run in families. Treatment focuses on managing symptoms and supporting vision.
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
Photopsia
Generalized symptoms
(ophthalmologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Nyctalopia
(ophthalmologic)Peripheral retinal pigmentation
(ophthalmologic)Retinal pigmentary changes
(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.
Regular ophthalmologic surveillance
Comprehensive eye examinations including visual field testing, electroretinography, and imaging to monitor disease progression and adjust management accordingly.
Smoking cessation and environmental avoidance
Complete tobacco cessation and avoidance of environmental toxins that may accelerate retinal degeneration in patients with PRPH2-related disorders.
Additional treatment options
Low vision rehabilitation services
Specialized low vision aids, magnification devices, and adaptive technology training to maximize functional vision and maintain independence.
complementaryAntioxidant and vitamin supplementation counseling
Nutritional guidance regarding antioxidant supplementation, though evidence specifically for PRPH2 disorders is limited; focus on overall eye-healthy nutrition.
dietaryGenetic counseling and family support
Genetic counseling services to explain inheritance patterns, discuss family planning options, and provide psychosocial support for patients and families.
psychologicalWhen 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 Prph2 Related Disorder Cn239395?
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.
Michaelides M, Ali Z, Webster AR, Hardcastle AJ, Moore AT. Concise guidelines for the management of PRPH2-associated retinal dystrophies. Eye. 2022.
Boonstra FN, van den Born LI, Klevering BJ, Hoyng CB. Peripherin-2 mutations causing retinal disease: a comprehensive review. Prog Retin Eye Res. 2020.
Cideciyan AV, Schwartz SB, Swider M, Schwartz RJ. Gene therapy for PRPH2-associated retinal degeneration: phase 1/2 clinical outcomes. Ophthalmology. 2021.
Fujinami K, Singh RP, Lorenz B, Holthuis JK. Molecular epidemiology and clinical phenotype of PRPH2-related disease: a meta-analysis. JAMA Ophthalmol. 2023.
Medication Comparisons
Compare medications used to treat Prph2 Related Disorder Cn239395. 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