Which gene-specific therapy is mentioned for RP?

Which gene-specific therapy is mentioned for RP?

• A. Luxturna for positive RPE65 gene
• B. Corticosteroid injections
• C. Stem cell transplantation
• D. Vitamin A only

Answer: (A)

Targeted gene-specific therapy for RP focuses on fixing or compensating for a particular genetic defect that causes the disease. When RP is due to mutations in the RPE65 gene, especially with two mutated copies (biallelic), a gene therapy can deliver a normal copy of that gene to the retinal cells to restore the missing protein’s function. Luxturna, or voretigene neparvovec, is the approved therapy for this scenario. It uses an adeno-associated virus vector to carry the functional RPE65 gene to retinal pigment epithelium cells via subretinal injection, aiming to improve or stabilize vision and light sensitivity in eligible patients. Genetic testing is essential to confirm eligibility, since this therapy is specifically for those with confirmed biallelic RPE65 mutations. Other listed options are not gene-specific therapies: corticosteroid injections treat inflammation rather than the genetic defect, stem cell transplantation isn’t a targeted gene therapy, and Vitamin A supplementation is not a gene-targeted approach.

Targeted gene-specific therapy for RP focuses on fixing or compensating for a particular genetic defect that causes the disease. When RP is due to mutations in the RPE65 gene, especially with two mutated copies (biallelic), a gene therapy can deliver a normal copy of that gene to the retinal cells to restore the missing protein’s function. Luxturna, or voretigene neparvovec, is the approved therapy for this scenario. It uses an adeno-associated virus vector to carry the functional RPE65 gene to retinal pigment epithelium cells via subretinal injection, aiming to improve or stabilize vision and light sensitivity in eligible patients. Genetic testing is essential to confirm eligibility, since this therapy is specifically for those with confirmed biallelic RPE65 mutations. Other listed options are not gene-specific therapies: corticosteroid injections treat inflammation rather than the genetic defect, stem cell transplantation isn’t a targeted gene therapy, and Vitamin A supplementation is not a gene-targeted approach.