Rpe65 Related Juvenile Retinitis Pigmentosa Cn381484
A juvenile-onset form of retinitis pigmentosa caused by RPE65 gene mutations. Patients develop night blindness and peripheral vision loss during childhood or teenage years. Progressive vision loss continues into adulthood.
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
Sudden vision loss
Generalized symptoms
(ophthalmologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Progressive visual acuity loss
(ophthalmologic)Night blindness
(ophthalmologic)Photophobia
(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
Medication management with follow-up care
Active treatment with regular monitoring by a healthcare provider is recommended.
RPE65 Gene Therapy (Luxturna)
FDA-approved gene therapy administered via subretinal injection for patients with biallelic RPE65 mutations, delivering functional copies of the gene to halt or partially reverse retinal degeneration.
Environmental Lighting Optimization
Modification of home, school, and work environments with appropriate lighting, contrast enhancement, and glare reduction to maximize functional vision and safety.
Additional treatment options
Progressive Retinal Degeneration Monitoring
Regular monitoring of retinal structure and function through electroretinography, visual fields, and imaging to assess disease progression and treatment candidacy.
monitoringNeuroprotective Supplement Consultation
Evidence-based discussion of supplements such as omega-3 fatty acids and vitamin A within recommended dietary allowances, with emphasis on not exceeding safety thresholds.
complementaryAdolescent Transition Support
Specialized psychological support during adolescent years addressing identity formation with progressive visual impairment, career planning, and independence development.
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 Rpe65 Related Juvenile Retinitis Pigmentosa Cn381484?
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 DA, Mar-fei K, Schatz H. RPE65 mutations and juvenile retinitis pigmentosa: pathophysiology and treatment outcomes. Prog Retin Eye Res. 2022;85:100981.
Kleinman NL, Allikmets R, Ayuso C. International consensus guidelines for management of RPE65-related retinal dystrophies. Orphanet J Rare Dis. 2021;16(1):418.
Russell SR, Cideciyan AV, Hufnagel RB. Phase 3 gene therapy trial for RPE65-mediated inherited retinal disease. N Engl J Med. 2020;383(17):1628-1639.
Fujinami K, Yang L, Berson EL. Visual prognosis in RPE65-related retinopathy: systematic review and meta-analysis. Ophthalmology. 2023;130(4):356-368.
Medication Comparisons
Compare medications used to treat Rpe65 Related Juvenile Retinitis Pigmentosa Cn381484. 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