Leber Congenital Amaurosis 1 C2931258
A genetic disorder causing severe vision loss from birth or early infancy. It affects the retina's light-detecting cells. Management includes low vision aids and regular eye monitoring.
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)Abnormal electroretinogram
(ophthalmologic)Oculodigital sign
(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.
Retinal Function Assessment
Ongoing comprehensive ophthalmologic evaluation including ERG, OCT imaging, and visual acuity testing to monitor disease progression.
Low Vision Adaptive Services
Provision of low vision aids, magnification devices, and training in adaptive strategies to maximize functional vision throughout life.
Additional treatment options
Developmental Support for Visual Impairment
Specialized support addressing developmental delays common in children with LCA, including cognitive stimulation and skill-building activities.
psychologicalGenetic Testing Confirmation
Confirmatory genetic testing to verify diagnosis, provide accurate genetic counseling, and identify potential eligibility for gene-specific therapies.
procedureEducational Accommodation Planning
Collaboration with schools to implement individualized education plans with appropriate accommodations for visual impairment in classroom settings.
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 Leber Congenital Amaurosis 1 C2931258?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
Compare medications used to treat Leber Congenital Amaurosis 1 C2931258. 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