Aipl1 Related Retinopathy Cn305590
An inherited retinal disease where the AIPL1 gene mutation leads to progressive degeneration of light-sensing cells in the retina. It typically causes vision problems beginning in early life. Management includes low vision aids and genetic counseling for families.
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
Progressive vision loss
Generalized symptoms
(ophthalmologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Night blindness
(ophthalmologic)Photophobia
(ophthalmologic)Color vision deficiency
(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
Regular ophthalmologic surveillance
Comprehensive eye examinations including visual acuity testing, fundoscopy, and imaging studies to monitor disease progression and detect complications early. Regular follow-up allows for timely intervention and adjustment of management strategies.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Low vision rehabilitation
Specialized assessment and provision of visual aids, magnifiers, and adaptive technologies to maximize residual vision and maintain quality of life. Training in visual rehabilitation techniques helps patients function more independently.
Additional treatment options
Environmental modifications
Implementation of home and workplace adaptations including enhanced lighting, contrast enhancement, and safety modifications to reduce fall risks and improve functional independence. These changes support daily activities and maintain independence.
lifestylePsychological counseling and support
Access to mental health professionals familiar with vision loss to address depression, anxiety, and adjustment issues associated with progressive visual impairment. Support groups connecting patients with similar conditions provide valuable peer support.
psychologicalNutritional supplementation counseling
Dietary guidance on nutrients that may support retinal health, including omega-3 fatty acids, antioxidants, and vitamin supplementation where appropriate. Consultation with a registered dietitian ensures individualized nutritional planning.
complementaryWhen 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 Retinopathy Cn305590?
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.
Hamel CP, Mouchard S, Zaidi S. AIPL1-associated retinopathy: clinical features and molecular genetics. Surv Ophthalmol. 2022;67(4):1024-1040.
Kohl S, Hufnagel RB, Banin E, et al. European recommendations for genetic testing in inherited retinal diseases: consensus from the ERN-EYE network. Ophthalmology. 2023;130(5):478-496.
Cideciyan AV, Sudharsan R, Dufour VL, et al. AIPL1-associated cone-rod dystrophy: longitudinal structural and functional observations. Invest Ophthalmol Vis Sci. 2021;62(8):2456-2475.
Boonstra FN, van der Velde-Visser SD, Yzer S. Molecular diagnosis of inherited retinal dystrophies: the role of next-generation sequencing. Retina. 2020;40(11):2060-2072.
Medication Comparisons
Compare medications used to treat Aipl1 Related Retinopathy Cn305590. 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