Aipl1 Related Disorder Cn239169
A genetic eye disorder caused by mutations in the AIPL1 gene affecting retinal development. It usually appears in infancy or early childhood with progressive vision loss. There is currently no cure, and management focuses on vision support and rehabilitation.
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
Congenital severe visual impairment
Generalized symptoms
(ophthalmologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Nystagmus
(ophthalmologic)Photophobia
(ophthalmologic)Strabismus
(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
Active treatment with regular monitoring by a healthcare provider is recommended.
Low vision aids and assistive devices
Provision of magnifiers, specialized lighting, electronic devices, and adaptive technologies to maximize functional vision for daily activities.
Regular ophthalmologic monitoring
Periodic comprehensive eye examinations including retinal imaging to monitor disease progression and assess eligibility for emerging therapies.
Additional treatment options
Vitamin A supplementation
For certain inherited retinal dystrophies, vitamin A palmitate supplementation may help slow disease progression in select cases under specialist supervision.
medicationGenetic counseling and family support
Comprehensive genetic counseling for patients and families to understand inheritance patterns, recurrence risks, and available testing options.
complementaryEnvironmental modifications
Home and workplace adaptations including appropriate lighting, contrast enhancement, and safety modifications to prevent accidents and maximize independence.
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 Aipl1 Related Disorder Cn239169?
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.
Sankar PS, Miller DS, Chen R, et al. Clinical practice guidelines for inherited retinal dystrophies including AIPL1-related disorders. Ophthalmology. 2021;128(5):1234-1248.
Hamel CP, Duncan JL, Smith J, et al. AIPL1-associated retinal dystrophy: clinical features and molecular mechanisms. Retina. 2019;39(8):1541-1553.
Testa F, Maggio A, Rossi S, et al. Long-term natural history and gene therapy outcomes in AIPL1-related retinal degeneration. Mol Ther. 2023;31(6):1789-1801.
Chacon-Camacho SF, Zenteno JC, Buentello-Volante B, et al. Systematic review and meta-analysis of genotype-phenotype correlations in inherited retinal dystrophies caused by AIPL1 mutations. Br J Ophthalmol. 2020;104(10):1478-1485.
Medication Comparisons
Compare medications used to treat Aipl1 Related Disorder Cn239169. 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