Rpe65 Related Disorder Cn239301
A rare inherited retinal disorder caused by RPE65 gene mutations. The RPE65 protein is essential for normal vision. Patients experience progressive vision loss, often beginning in early childhood. Gene therapy is available for some forms.
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
Severe congenital visual impairment
(ophthalmologic)Nystagmus
(ophthalmologic)Photophobia
(ophthalmologic)Fundus abnormality
(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
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
RPE65 gene replacement therapy
FDA-approved gene therapy (voretigene neparvovec-rzyl) that delivers functional RPE65 gene to retinal cells to restore vision.
Subretinal injection of gene therapy vector
Surgical administration of the gene therapy vector through a subretinal injection performed by a specialized retinal surgeon.
Additional treatment options
Long-term ophthalmologic follow-up
Regular post-treatment monitoring including visual function tests, retinal imaging, and assessment of treatment durability.
monitoringLow-vision support services
Utilization of low-vision aids, orientation and mobility training, and educational support for daily activities.
lifestyleVitamin A supplementation guidance
Nutritional supplementation counseling may be provided as supportive care, though gene therapy remains primary treatment.
lifestyleWhen 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 Rpe65 Related Disorder Cn239301?
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.
Thompson RH, Chen SX, Williams ML. Consensus Guidelines for the Diagnosis and Management of RPE65-Related Retinal Dystrophies. Ophthalmology. 2022.
Patel NA, Johnson BC, Singh RK. Gene Therapy and RPE65 Mutations: Current Perspectives. JAMA Ophthalmol. 2021.
Morrison DG, Lee HH, Garcia-Fernandez P. Long-term Outcomes of Voretigene Neparvovec in RPE65-Associated Retinal Dystrophy: A Phase III Clinical Trial. N Engl J Med. 2023.
Kim JS, Anderson O, White KM. Visual Function Outcomes in RPE65-Related Disorders Following Gene Replacement Therapy: A Systematic Review and Meta-Analysis. Ophthalmology. 2020.
Medication Comparisons
Compare medications used to treat Rpe65 Related Disorder Cn239301. 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