Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Navigating the grey areas of life: exploring the lived experiences of children and adolescents with visual impairment.

Disability and rehabilitation·2026
Same author

Recruiting children and young people with vision impairment for clinical research - experience from the SeeMyLife study.

BMC medical research methodology·2026
Same author

Clinically relevant AAV8- <i>PEX1</i> gene therapy preserves retinal integrity and function long-term in a murine model of Zellweger spectrum disorder.

bioRxiv : the preprint server for biology·2026
Same author

PCR-confirmed severe geographic HSV-1 keratitis associated with systemic JAK inhibitor therapy.

Journal of ophthalmic inflammation and infection·2026
Same author

Diagnosis and Metabolic Management of Adult Refsum Disease: Guidance From the Medical and Scientific Committee of Global DARE (Defeat Adult Refsum Everywhere).

Journal of inherited metabolic disease·2026
Same author

Expert Consensus on Characteristics, Etiology, and Management of Chorioretinal Atrophy in Patients Treated with Voretigene Neparvovec.

Ophthalmology science·2026

Related Experiment Video

Updated: Nov 27, 2025

Retinal Pigment Epithelium Transplantation in a Non-human Primate Model for Degenerative Retinal Diseases
11:20

Retinal Pigment Epithelium Transplantation in a Non-human Primate Model for Degenerative Retinal Diseases

Published on: June 14, 2021

4.1K

Clinical Perspective: Treating RPE65-Associated Retinal Dystrophy.

Albert M Maguire1, Jean Bennett1, Elena M Aleman2

  • 1Center for Advanced Retinal and Ocular Therapeutics (CAROT), Department of Ophthalmology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA; The Children's Hospital of Philadelphia (CHOP), Philadelphia, PA, USA.

Molecular Therapy : the Journal of the American Society of Gene Therapy
|December 5, 2020
PubMed
Summary

The first FDA-approved gene therapy, Luxturna, successfully reversed blindness in patients with a specific inherited retinal disease. This breakthrough offers hope and drives further development of gene therapies for genetic blindness.

More Related Videos

A Step by Step Protocol for Subretinal Surgery in Rabbits
12:31

A Step by Step Protocol for Subretinal Surgery in Rabbits

Published on: September 13, 2016

15.8K
A Protocol to Evaluate and Quantify Retinal Pigmented Epithelium Pathologies in Mouse Models of Age-Related Macular Degeneration
09:24

A Protocol to Evaluate and Quantify Retinal Pigmented Epithelium Pathologies in Mouse Models of Age-Related Macular Degeneration

Published on: March 10, 2023

2.1K

Related Experiment Videos

Last Updated: Nov 27, 2025

Retinal Pigment Epithelium Transplantation in a Non-human Primate Model for Degenerative Retinal Diseases
11:20

Retinal Pigment Epithelium Transplantation in a Non-human Primate Model for Degenerative Retinal Diseases

Published on: June 14, 2021

4.1K
A Step by Step Protocol for Subretinal Surgery in Rabbits
12:31

A Step by Step Protocol for Subretinal Surgery in Rabbits

Published on: September 13, 2016

15.8K
A Protocol to Evaluate and Quantify Retinal Pigmented Epithelium Pathologies in Mouse Models of Age-Related Macular Degeneration
09:24

A Protocol to Evaluate and Quantify Retinal Pigmented Epithelium Pathologies in Mouse Models of Age-Related Macular Degeneration

Published on: March 10, 2023

2.1K

Area of Science:

  • Ophthalmology
  • Genetics
  • Biotechnology

Background:

  • Inherited retinal diseases (IRDs) cause progressive vision loss and blindness.
  • Previously, no approved treatments were available for many IRDs.
  • Gene therapy offers a potential therapeutic strategy for genetic eye conditions.

Purpose of the Study:

  • To review the development and administration of voretigene neparvovec-rzyl (Luxturna) for treating a specific IRD.
  • To discuss the impact of Luxturna as the first FDA-approved gene therapy for a genetic disease.
  • To explore how Luxturna's success can inform future gene-based treatments for blindness.

Main Methods:

  • Subretinal injection of a recombinant adeno-associated virus (AAV) vector delivering the RPE65 gene.
  • Clinical trials in animal models and human patients.
  • Regulatory review and approval processes (FDA, EMA).

Main Results:

  • Successful reversal of blindness in patients with RPE65-mediated IRD.
  • Luxturna became the first FDA-approved gene therapy for a genetic disease.
  • Demonstrated the potential of in vivo gene therapy for inherited blindness.

Conclusions:

  • Luxturna represents a paradigm shift in treating genetic retinal diseases.
  • Experience with Luxturna administration provides valuable insights for future gene therapy development.
  • This success stimulates research into novel gene therapies for various forms of inherited blindness.