Leber Congenital Amaurosis 2 C1859844
A genetic retinal disorder causing severe vision loss in infancy. One form (RPE65 mutations) has an FDA-approved gene therapy available. Other management includes low vision support.
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 blindness
Generalized symptoms
(ophthalmologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Nystagmus
(ophthalmologic)Photophobia
(ophthalmologic)Keratoconus
(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
Gene therapy (Luxturna/voretigene neparvovec)
FDA-approved gene replacement therapy delivering functional RPE65 gene via subretinal injection to restore visual cycle function in patients with confirmed RPE65 mutations. Requires surgical administration by experienced retinal specialists.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Regular ophthalmologic monitoring
Comprehensive eye examinations including electroretinography, visual field testing, and retinal imaging to track disease progression and evaluate treatment response. Essential for detecting complications such as cataract or keratoconus.
Additional treatment options
Cataract extraction
Surgical removal of cataracts that commonly develop in LCA patients, often combined with intraocular lens implantation. Improves remaining vision when cataracts contribute to visual impairment.
surgicalVision rehabilitation and counseling
Comprehensive psychological support addressing challenges of congenital blindness including coping strategies, family counseling, and connection with support networks. Helps patients and families navigate social and emotional aspects of visual impairment.
psychologicalLow vision aids and assistive technology
Prescription and training in use of optical devices, electronic magnifiers, and adaptive technologies to maximize functional vision for daily activities. Includes orientation and mobility training.
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 Leber Congenital Amaurosis 2 C1859844?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
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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