The first gene therapy for RPE65 biallelic dystrophy with voretigene neparvovec-rzyl in Brazil.

Purpose: To report the first Brazilian patient with RPE65 deficiency-inherited retinal dystrophy ( RPE65 -IRD) treated with voretigene neparvovec-rzyl (VN).
Methods: An adult patient with Leber congenital amaurosis-2 with a homozygous mutation in the RPE65 gene (p.Phe83Leu) was treated bilaterally with VN. The clinical and surgical aspects are described. The baseline and 4-month postoperative ophthalmologic examinations included measurement of the best-corrected visual acuity (BCVA), full-field stimulus threshold (FST) test, Octopus 900 semiautomated kinetic visual fields (VFs), and microperimetry.
Results: No complications developed in this patient. The BCVA remained stable. The full-field stimulus threshold test (FST) and VFs showed clinically significant improvements bilaterally. The patient reported significant improvements in the ability to perform daily activities, mainly for those requiring the VFs and vision in a low-luminescence environment.
Conclusions: The treatments were beneficial for this patient who was homozygous for RPE65 p.Phe83Leu. The first VN treatments in an adult Brazilian patient in clinical practice showed measurable improvements in visual outcomes that were meaningful for the patient's daily activities.
Translational Relevance: This case reinforces the clinical trial results and proves that the procedure is feasible in countries such as Brazil.