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Short-term outcomes of pediatric patients with mild autosomal recessive RPE65-associated retinal dystrophy treated with voretigene neparvovec

David A. Merle, Leen Hertens (UGent) , Spyridon Dimopoulos, Susanne Kohl, Manon Van Haute (UGent) , Elfride De Baere (UGent) , Marieke De Bruyne (UGent) , Barbara Janssens (UGent) , Klaus Ruther, Cord Huchzermeyer, et al.
(2025) TRANSLATIONAL VISION SCIENCE & TECHNOLOGY. 14(8).
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Abstract
Purpose: Voretigene neparvovec is approved for RPE65-associated inherited retinal degeneration (RPE65-IRD) in the United States and the European Union. According to current knowledge, early treatment benefits efficacy. However, consensus on treating mild cases is lacking due to ambiguity in balancing clinical benefits with potential side effects. Therefore, we present short-term outcomes of four pediatric patients with milder types of RPE65-IRD. Methods: Two unrelated pediatric patients were unilaterally treated at the University Eye Hospital in T & uuml;bingen, Germany. Another two unrelated pediatric patients were bilaterally treated at Ghent University Hospital, Belgium. Examinations were performed before and until at least 6 months after treatment, including best-corrected visual acuity, slit-lamp examination, fundus photography, short-wavelength fundus autofluorescence, optical coherence tomography, 90 degrees kinetic perimetry, dark-adapted chromatic perimetry, and full-field stimulus threshold measurements. Results: Despite surgical challenges, treatment with voretigene neparvovec was successful in all four patients. All patients showed rod functional rescue with stable best-corrected visual acuity. Three patients suffered chorioretinal atrophy at the retinotomy site but none developed signs of fast-growing CRA. One case developed limited CRA in the bleb area, potentially related to inflammation in the subretinal space. Conclusions: Treatment with voretigene neparvovec was safe and effective in patients with mild RPE65-IRD. Early treatment showed good functional outcomes. Also, treatment at stages without profound retinal degeneration might lower the risk of fast-growing CRA. Translational Relevance: This study aids clinical decision-making in unclear cases by demonstrating that early treatment with voretigene neparvovec in mild RPE65-IRD provides functional benefits while minimizing the risk of fast-growing chorioretinal atrophy.
Keywords
RPE65, gene therapy, retina, voretigene neparvovec, CLINICAL-FEATURES, RPE65 MUTATIONS, CHILDHOOD, GENETICS

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MLA
Merle, David A., et al. “Short-Term Outcomes of Pediatric Patients with Mild Autosomal Recessive RPE65-Associated Retinal Dystrophy Treated with Voretigene Neparvovec.” TRANSLATIONAL VISION SCIENCE & TECHNOLOGY, vol. 14, no. 8, 2025, doi:10.1167/tvst.14.8.8.
APA
Merle, D. A., Hertens, L., Dimopoulos, S., Kohl, S., Van Haute, M., De Baere, E., … Stingl, K. (2025). Short-term outcomes of pediatric patients with mild autosomal recessive RPE65-associated retinal dystrophy treated with voretigene neparvovec. TRANSLATIONAL VISION SCIENCE & TECHNOLOGY, 14(8). https://doi.org/10.1167/tvst.14.8.8
Chicago author-date
Merle, David A., Leen Hertens, Spyridon Dimopoulos, Susanne Kohl, Manon Van Haute, Elfride De Baere, Marieke De Bruyne, et al. 2025. “Short-Term Outcomes of Pediatric Patients with Mild Autosomal Recessive RPE65-Associated Retinal Dystrophy Treated with Voretigene Neparvovec.” TRANSLATIONAL VISION SCIENCE & TECHNOLOGY 14 (8). https://doi.org/10.1167/tvst.14.8.8.
Chicago author-date (all authors)
Merle, David A., Leen Hertens, Spyridon Dimopoulos, Susanne Kohl, Manon Van Haute, Elfride De Baere, Marieke De Bruyne, Barbara Janssens, Klaus Ruther, Cord Huchzermeyer, Pascale Mazzola, Fanny Nerinckx, Tobias Haack, Lasse Wolfram, Melanie Kempf, Laura Kuhlewein, Krunoslav Stingl, Bart Leroy, and Katarina Stingl. 2025. “Short-Term Outcomes of Pediatric Patients with Mild Autosomal Recessive RPE65-Associated Retinal Dystrophy Treated with Voretigene Neparvovec.” TRANSLATIONAL VISION SCIENCE & TECHNOLOGY 14 (8). doi:10.1167/tvst.14.8.8.
Vancouver
1.
Merle DA, Hertens L, Dimopoulos S, Kohl S, Van Haute M, De Baere E, et al. Short-term outcomes of pediatric patients with mild autosomal recessive RPE65-associated retinal dystrophy treated with voretigene neparvovec. TRANSLATIONAL VISION SCIENCE & TECHNOLOGY. 2025;14(8).
IEEE
[1]
D. A. Merle et al., “Short-term outcomes of pediatric patients with mild autosomal recessive RPE65-associated retinal dystrophy treated with voretigene neparvovec,” TRANSLATIONAL VISION SCIENCE & TECHNOLOGY, vol. 14, no. 8, 2025.
@article{01KMQRS247J6NK93Q0H9VBFZ2F,
  abstract     = {{Purpose: Voretigene neparvovec is approved for RPE65-associated inherited retinal degeneration (RPE65-IRD) in the United States and the European Union. According to current knowledge, early treatment benefits efficacy. However, consensus on treating mild cases is lacking due to ambiguity in balancing clinical benefits with potential side effects. Therefore, we present short-term outcomes of four pediatric patients with milder types of RPE65-IRD. Methods: Two unrelated pediatric patients were unilaterally treated at the University Eye Hospital in T & uuml;bingen, Germany. Another two unrelated pediatric patients were bilaterally treated at Ghent University Hospital, Belgium. Examinations were performed before and until at least 6 months after treatment, including best-corrected visual acuity, slit-lamp examination, fundus photography, short-wavelength fundus autofluorescence, optical coherence tomography, 90 degrees kinetic perimetry, dark-adapted chromatic perimetry, and full-field stimulus threshold measurements. Results: Despite surgical challenges, treatment with voretigene neparvovec was successful in all four patients. All patients showed rod functional rescue with stable best-corrected visual acuity. Three patients suffered chorioretinal atrophy at the retinotomy site but none developed signs of fast-growing CRA. One case developed limited CRA in the bleb area, potentially related to inflammation in the subretinal space. Conclusions: Treatment with voretigene neparvovec was safe and effective in patients with mild RPE65-IRD. Early treatment showed good functional outcomes. Also, treatment at stages without profound retinal degeneration might lower the risk of fast-growing CRA. Translational Relevance: This study aids clinical decision-making in unclear cases by demonstrating that early treatment with voretigene neparvovec in mild RPE65-IRD provides functional benefits while minimizing the risk of fast-growing chorioretinal atrophy.}},
  articleno    = {{8}},
  author       = {{Merle, David A. and Hertens, Leen and Dimopoulos, Spyridon and Kohl, Susanne and Van Haute, Manon and De Baere, Elfride and De Bruyne, Marieke and Janssens, Barbara and Ruther, Klaus and Huchzermeyer, Cord and Mazzola, Pascale and Nerinckx, Fanny and Haack, Tobias and Wolfram, Lasse and Kempf, Melanie and Kuhlewein, Laura and Stingl, Krunoslav and Leroy, Bart and Stingl, Katarina}},
  issn         = {{2164-2591}},
  journal      = {{TRANSLATIONAL VISION SCIENCE & TECHNOLOGY}},
  keywords     = {{RPE65,gene therapy,retina,voretigene neparvovec,CLINICAL-FEATURES,RPE65 MUTATIONS,CHILDHOOD,GENETICS}},
  language     = {{eng}},
  number       = {{8}},
  pages        = {{17}},
  title        = {{Short-term outcomes of pediatric patients with mild autosomal recessive RPE65-associated retinal dystrophy treated with voretigene neparvovec}},
  url          = {{http://doi.org/10.1167/tvst.14.8.8}},
  volume       = {{14}},
  year         = {{2025}},
}
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