Leber congenital amaurosis (LCA) type 2
Brief information about it:
Leber congenital amaurosis (LCA) type 2 is a rare genetic disorder that causes vision loss from birth. It is caused by mutations in the RPE65 gene, which is essential for the function of photoreceptor cells in the retina.
Uses:
Treatment of LCA type 2: Gene therapy is currently being investigated as a potential treatment for LCA type 2. The goal of gene therapy is to deliver a functional copy of the RPE65 gene to the retina, which could potentially restore vision.
Mechanism of action:
· Delivery of the RPE65 gene: A viral vector, such as a harmless virus, is used to deliver a functional copy of the RPE65 gene to the retinal cells.
· Production of RPE65 protein: The delivered gene instructs the retinal cells to produce the RPE65 protein, which is essential for the function of photoreceptor cells.
· Improved vision: The restored function of photoreceptor cells may lead to improved vision.
Elimination half life:
The elimination half-life of the gene therapy vector and the RPE65 protein can vary depending on individual factors. It is generally excreted from the body over a period of weeks or months.
Route of Administration:
Gene therapy for LCA type 2 is administered as a one-time subretinal injection. This involves surgically injecting the therapy directly into the retina of the eye.
Side effects:
Gene therapy for LCA type 2 can cause side effects, including:
- Eye inflammation
- Increased eye pressure
- Floaters
- Vision changes
- Infections
Dose:
The recommended dose of gene therapy for LCA type 2 is determined based on the patient’s age and other factors.
Precautions:
· Consult a doctor: Before receiving gene therapy for LCA type 2, consult with a healthcare professional to ensure it is safe for you and to discuss potential risks and benefits.
· Medical history: Inform your doctor about any personal or family history of conditions such as eye diseases or infections.
· Eye exams: Regular eye exams are important to monitor the effects of gene therapy and to detect any potential side effects.
