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Retinal gene therapy in RPE-65 gene mediated inherited retinal dystrophy.

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Voretigene neparvovec (VN) gene therapy improved vision in one eye for a patient with RPE65 mutations. However, the second eye experienced vision loss due to a potential immune response, highlighting gene therapy challenges.

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Area of Science:

  • Ophthalmology
  • Genetics
  • Clinical Medicine

Background:

  • Voretigene neparvovec (VN) is a gene therapy for retinal dystrophies caused by bi-allelic RPE65 mutations.
  • This case study explores the benefits and risks of ocular gene therapy within a single patient.

Purpose of the Study:

  • To evaluate the efficacy and safety of voretigene neparvovec (VN) in treating bi-allelic RPE65 mutation-associated retinal dystrophy.
  • To document both positive outcomes and adverse events of VN therapy in the same patient.

Main Methods:

  • Bilateral subretinal VN gene therapy administered to one patient with bi-allelic RPE65 mutations.
  • Comprehensive ophthalmological examinations including visual acuity, color vision, electrophysiology (ISCEV standard, FST), visual field analysis, and OCT imaging.
  • Evaluations conducted at baseline and multiple follow-up points up to 2 years post-treatment.

Main Results:

  • The first eye demonstrated improved rod function, peripheral vision, and low-luminance visual acuity.
  • The second eye showed increased light sensitivity but experienced a decline in central vision and foveal photoreceptor loss (ellipsoid zone on OCT).
  • Both eyes maintained improvements in full-field stimulus threshold (FST), indicating sustained efficacy of VN.

Conclusions:

  • A potential immune response to subretinal VN therapy in the second eye led to foveal photoreceptor loss, an unreported complication.
  • This case highlights the dual potential and significant challenges, including immune responses to vectors, of retinal gene therapy.
  • Managing immune reactions remains a critical hurdle for the successful application of ocular gene therapies.