Gene Therapy Using Recombinant Adeno-Associated Virus for Leber Congenital Amaurosis Induced by RPE65 Mutation.

Area of Science:

• Ophthalmology
• Genetics
• Molecular Biology

Background:

• Leber congenital amaurosis 2 (LCA-2) is a severe inherited retinal dystrophy caused by RPE65 mutations.
• Current treatments for inherited retinal dystrophies (IRDs) include symptom management and assistive devices, with no definitive cure.

Purpose of the Study:

• To review recent advancements in adeno-associated virus (AAV) vector-mediated gene therapy for LCA-2.
• To explore methodological strategies and therapeutic aims for RPE65 gene therapy in LCA-2.

Main Methods:

• Literature search conducted on PubMed, Scopus, and Web of Science.
• Focus on studies investigating AAV vectors for delivering functional RPE65 genes to affected retinal cells.

Main Results:

• AAV vectors demonstrate efficacy in restoring retinal and visual functions in LCA-2 animal models.
• AAV vectors exhibit efficient gene delivery with minimal immune responses and mutagenesis.
• Advancements facilitate clinical trials for LCA-2 gene therapy.

Conclusions:

• AAV vectors are suitable for ocular gene therapy due to their safety, efficacy, and sustained transgene expression.
• Further research is needed to address potential immune responses and off-target effects.
• Gene therapy offers a promising therapeutic strategy for LCA-2 and other IRDs.