DISEASE SCANNER
Global Incurable Diseases Tracker
Leber Congenital Amaurosis (LCA)
A group of inherited retinal dystrophies causing severe visual impairment at birth or early infancy. Most common genetic cause of childhood blindness. Multiple genetic subtypes; RPE65-related LCA treatable with gene therapy.
30.0K
15
Symptoms
Treatment Options
Risk Factors
Diagnostic Methods
- 1Genetic testing
- 2Clinical evaluation
- 3Family history assessment
- 4Specialized laboratory tests
- 5Imaging studies
- 6Biopsy (if applicable)
Prognosis
Severe congenital visual impairment persists lifelong. Some forms (RPE65 mutations) may benefit from gene therapy (voretigene neparvovec) if treated early enough. Most patients have legal blindness (20/200 or worse) throughout life. Associated systemic findings (kidney disease, intellectual disability) depend on specific genetic cause. Early intervention services and educational support essential. Regular ophthalmologic monitoring for complications.
Prevention
- Genetic counseling
- Carrier screening
- Prenatal diagnosis
- Preimplantation genetic diagnosis
- Family planning
Research Status
Voretigene neparvovec (Luxturna) approved for RPE65 mutations. Gene therapy trials for other LCA subtypes. Nutritional supplements for some forms. Visual rehabilitation and low vision services essential.
Affected Countries
Sources
- https://www.ncbi.nlm.nih.gov/books/NBK1116
- https://medlineplus.gov/genetics
- https://rarediseases.org
Medical Disclaimer
This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.