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

The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...

You might also read

Related Articles

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

Sort by
Same author

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.

Nature genetics·2026
Same author

Neural Network-Based Prediction of Post-Operative Visual Outcomes Following Secondary Pediatric Intraocular Lens Implantation.

Children (Basel, Switzerland)·2025
Same author

Neural Network Prediction of Keratoconus in AIPL1-Linked Leber Congenital Amaurosis: A Proof-of-Concept Pilot Study.

Journal of clinical medicine·2025
Same author

RetiGene, a comprehensive gene atlas for inherited retinal diseases.

American journal of human genetics·2025
Same author

RetiGene, a comprehensive gene atlas for inherited retinal diseases (IRDs).

bioRxiv : the preprint server for biology·2025
Same author

Expansion of the ABCA4-Associated Retinopathy Spectrum: Severe Variants Can be Associated With Early-Onset Severe Retinal Dystrophy.

Investigative ophthalmology & visual science·2025

Related Experiment Video

Updated: Jul 2, 2026

Sub-Retinal Delivery of Human Embryonic Stem Cell Derived Photoreceptor Progenitors in rd10 Mice
07:46

Sub-Retinal Delivery of Human Embryonic Stem Cell Derived Photoreceptor Progenitors in rd10 Mice

Published on: October 6, 2023

Successful RPE65 gene replacement and improved visual function in humans.

Robert K Koenekoop

    Ophthalmic Genetics
    |September 4, 2008
    PubMed
    Summary

    Gene therapy for Leber congenital amaurosis (LCA) shows promise. RPE65 gene replacement in LCA patients led to significant visual improvements without adverse effects, offering hope for inherited retinal diseases.

    Area of Science:

    • Ophthalmology
    • Genetics
    • Molecular Biology

    Background:

    • Leber congenital amaurosis (LCA) is a severe inherited retinal dystrophy causing early-onset blindness.
    • Mutations in 14 genes, affecting retinal pathways like photoreceptor development and the retinoid cycle, cause ~60% of LCA cases.
    • Some LCA subtypes, like RPE65 deficiency, retain viable photoreceptors, enabling therapeutic intervention.

    Discussion:

    • Human trials involving RPE65 gene replacement therapy in LCA patients demonstrated notable visual function improvements.
    • Objective measures including visual acuity, visual fields, and obstacle course navigation showed positive outcomes.
    • No local or systemic side effects were reported, indicating a favorable safety profile.

    Key Insights:

    • RPE65 gene replacement therapy can restore visual function in LCA patients.

    More Related Videos

    Subretinal Transplantation of Human Embryonic Stem Cell-Derived Retinal Tissue in a Feline Large Animal Model
    07:43

    Subretinal Transplantation of Human Embryonic Stem Cell-Derived Retinal Tissue in a Feline Large Animal Model

    Published on: August 5, 2021

    Isolation, Culture, and Genetic Engineering of Mammalian Primary Pigment Epithelial Cells for Non-Viral Gene Therapy
    09:46

    Isolation, Culture, and Genetic Engineering of Mammalian Primary Pigment Epithelial Cells for Non-Viral Gene Therapy

    Published on: February 26, 2021

    Related Experiment Videos

    Last Updated: Jul 2, 2026

    Sub-Retinal Delivery of Human Embryonic Stem Cell Derived Photoreceptor Progenitors in rd10 Mice
    07:46

    Sub-Retinal Delivery of Human Embryonic Stem Cell Derived Photoreceptor Progenitors in rd10 Mice

    Published on: October 6, 2023

    Subretinal Transplantation of Human Embryonic Stem Cell-Derived Retinal Tissue in a Feline Large Animal Model
    07:43

    Subretinal Transplantation of Human Embryonic Stem Cell-Derived Retinal Tissue in a Feline Large Animal Model

    Published on: August 5, 2021

    Isolation, Culture, and Genetic Engineering of Mammalian Primary Pigment Epithelial Cells for Non-Viral Gene Therapy
    09:46

    Isolation, Culture, and Genetic Engineering of Mammalian Primary Pigment Epithelial Cells for Non-Viral Gene Therapy

    Published on: February 26, 2021

  • Therapeutic success was observed despite the absence of electroretinography (ERG) signal improvements.
  • The study validates gene replacement as a viable strategy for certain inherited retinal dystrophies.

    • Outlook:

    • Further research will explore treating younger patients and higher dosages for LCA.
    • The success of RPE65 therapy may pave the way for treating related inherited retinal disorders.
    • Continued investigation into gene therapy for inherited blindness is warranted.