Autosomal Recessive RPE65-Deficient Leber Congenital Amaurosis

A 17-year-old male with a biallelic RPE65 mutation resulting in autosomal recessive Leber Congenital Amaurosis is referred for evaluation for subretinal gene therapy with voretigene neparvovec-rzyl. Baseline evaluation was remarkable for severe nyctalopia and limited peripheral vision with VA 20/50 bilaterally. The patient underwent bilateral pars plana vitrectomy and subretinal gene therapy. At 3 and 4 weeks postoperatively, the patient was found to have VA 20/40 and 20/50 in the right and left eyes, respectively. He referred significant overall functional improvement as well as improved night vision. No major complications occurred in the short-term follow up. Subretinal voretigene neparvovec-rzyl may provide improvement in overall function, central vision, and may result in slower disease progression in adult patients with RPE65 Leber Congenital Amaurosis. 

Presentation Date: 09/20/2018

Issue Date: 08/01/2020