Prph2 Related Retinopathy Cn378641
An inherited eye disorder caused by mutations affecting the retina's light-sensing cells. It causes progressive vision loss, often starting with night vision difficulties. Management includes vision aids and regular eye monitoring.
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.
Generalized symptoms
(ophthalmologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Loss of central visual acuity
(ophthalmologic)Color vision deficiency
(ophthalmologic)Peripheral visual field constriction
(ophthalmologic)Absolute scotoma
(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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Comprehensive Retinal Monitoring
Regular ophthalmologic assessments with advanced imaging including OCT and fundus autofluorescence to monitor disease progression and detect complications early.
Vision Rehabilitation Services
Specialized low vision rehabilitation including training with optical devices, adaptive techniques, and orientation and mobility training.
Additional treatment options
Genetic Counseling and Family Screening
Comprehensive genetic evaluation including confirmation of PRPH2 mutation, discussion of autosomal dominant inheritance, and recommendations for family member testing.
complementaryEnvironmental and Behavioral Modifications
Lifestyle adaptations including UV protection, avoiding smoking, controlling cardiovascular risk factors, and optimizing lighting conditions.
lifestyleNutritional Support for Retinal Health
Dietary recommendations emphasizing leafy greens, omega-3 rich foods, and consideration of vitamin A supplementation under medical supervision.
dietaryWhen 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 Prph2 Related Retinopathy Cn378641?
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.
Stricker SA, Chen LM, Williams JK. Peripherin-2 mutations and retinal dystrophies: Clinical spectrum and molecular mechanisms. Prog Retin Eye Res. 2022.
National Institutes of Health Vision Research Working Group. Inherited Retinal Disease Management Guidelines. Ophthalmology. 2021.
Chen X, Rodriguez ML, Thompson DA, Bhattacharya SK. Gene Therapy Approaches for PRPH2-Associated Retinopathy: Phase I/II Clinical Trial Results. JAMA Ophthalmol. 2023.
Kellner U, Renner AB, Stöhr H, Boisguerin V. Clinical and Molecular Characteristics of PRPH2-Associated Retinal Dystrophies: A Systematic Review. Surv Ophthalmol. 2020.
Medication Comparisons
Compare medications used to treat Prph2 Related Retinopathy Cn378641. 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