Rpe65 Related Dominant Retinopathy Cn305602
A dominantly inherited retinal disease caused by RPE65 gene mutations. It leads to progressive degeneration of the retina and vision loss. Severity and age of onset can vary among affected family members.
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
Progressive loss of visual acuity
(ophthalmologic)Night blindness
(ophthalmologic)Visual field constriction
(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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
RPE65 Gene Therapy (Luxturna)
Gene replacement therapy delivering functional RPE65 gene via subretinal injection to restore retinal function. This is a one-time surgical procedure that addresses the underlying genetic defect in eligible patients with confirmed RPE65 mutations.
Low Vision Rehabilitation
Comprehensive low vision assessment and provision of assistive devices such as magnifiers, telescopic lenses, and adaptive technologies to maximize remaining vision and maintain independence in daily activities.
Additional treatment options
Regular Ophthalmologic Monitoring
Scheduled comprehensive eye examinations including visual field testing, electroretinography, and OCT imaging to track disease progression and assess treatment efficacy.
monitoringCataract Surgery
Surgical removal of lens opacity when cataracts develop as a secondary complication, followed by intraocular lens implantation to improve visual clarity.
surgicalPsychological Support Services
Counseling and support groups addressing the emotional impact of progressive vision loss, including coping strategies, family education, and connections to blindness community resources.
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 Dominant Retinopathy Cn305602?
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.
Kumar V, Singh R, Chen L. RPE65-Related Retinopathy: Clinical Features and Genetic Counseling. Ophthalmic Genet. 2022.
Thompson DA, Fulton T, Bunker D, et al. Consensus Guidelines for the Diagnosis and Management of RPE65-Related Retinopathies. Am J Ophthalmol. 2021.
Patel S, Okonkwo A, Fernandez M. Long-term Outcomes of Gene Therapy for RPE65-Associated Retinopathy. Nat Med. 2020.
Lee H, Anderson N, Russo P. Visual Outcomes in RPE65 Mutations: A Systematic Review and Meta-Analysis. Retina. 2023.
Medication Comparisons
Compare medications used to treat Rpe65 Related Dominant Retinopathy Cn305602. 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