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

iPS Cell Differentiation01:22

iPS Cell Differentiation

The ability of induced pluripotent stem cells or iPSCs to differentiate into most body cell types has stimulated repair and regenerative medicine research over the past few decades. iPSC-derived blood cells, hepatocytes, beta islet cells, cardiomyocytes, neurons, and other cell types can repair injuries or regenerate damaged tissue in diseases such as diabetes and neurodegenerative disorders.
Gene Therapy00:59

Gene Therapy

Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be inserted. The...

You might also read

Related Articles

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

Sort by
Same author

Generation of an induced pluripotent stem cell line, LGMi002-A, from a Bardet-Biedl Syndrome patient with a BBS5 homozygous pathogenic variant.

Stem cell research·2026
Same author

Generation of an induced pluripotent stem cell line from an Alström syndrome patient with biallelic ALMS1 pathogenic variants.

Stem cell research·2026
Same author

Identification of Two Novel Mutations in the CHM Gene Causing Choroideremia.

American journal of medical genetics. Part A·2026
Same author

PIKfyve is an essential component of the endolysosomal pathway within photoreceptors and the retinal pigment epithelium.

Experimental eye research·2026
Same author

Modulation of Aerobic Glycolysis Genes During the Progression of Retinitis Pigmentosa.

Investigative ophthalmology & visual science·2026
Same author

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

Nature genetics·2026
Same journal

Reply to Comment on Visual Field Progression in Glaucoma Patients with Delayed Follow-Up.

American journal of ophthalmology·2026
Same journal

Comment on: "Safety and efficiency reducing retinopathy of prematurity guideline sensitivity: an external validation using a large US-based dataset".

American journal of ophthalmology·2026
Same journal

Reply to Comment on "Clinicopathological and Imaging Distinction Between Ocular Adnexal MALT Lymphoma and IgG4-Related Ophthalmic Disease".

American journal of ophthalmology·2026
Same journal

Comment on: Visual Field Progression in Glaucoma Patients With Delayed Follow-Up.

American journal of ophthalmology·2026
Same journal

Corneal sensitivity changes and nerve plexus abnormalities in noninfectious anterior uveitis.

American journal of ophthalmology·2026
Same journal

Role of Menopausal Hormone Therapy on Strabismus, Strabismus Surgery, and Reoperation Rates.

American journal of ophthalmology·2026
See all related articles

Related Experiment Video

Updated: May 10, 2026

Limbal Approach-Subretinal Injection of Viral Vectors for Gene Therapy in Mice Retinal Pigment Epithelium
06:48

Limbal Approach-Subretinal Injection of Viral Vectors for Gene Therapy in Mice Retinal Pigment Epithelium

Published on: August 7, 2015

Choroideremia: towards a therapy.

Vasiliki Kalatzis1, Christian P Hamel1, Ian M MacDonald2

  • 1Institut National de la Santé et de la Recherche Médicale U1051, Institute for Neurosciences of Montpellier, Montpellier, France.

American Journal of Ophthalmology
|July 2, 2013
PubMed
Summary
This summary is machine-generated.

Ocular gene therapy shows promise for preventing vision loss in choroideremia (CHM). Early gene therapy trials are underway, offering hope for treating this progressive retinal disease.

More Related Videos

Electroporation-Based Genetic Modification of Primary Human Pigment Epithelial Cells Using the Sleeping Beauty Transposon System
07:04

Electroporation-Based Genetic Modification of Primary Human Pigment Epithelial Cells Using the Sleeping Beauty Transposon System

Published on: February 4, 2021

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

Related Experiment Videos

Last Updated: May 10, 2026

Limbal Approach-Subretinal Injection of Viral Vectors for Gene Therapy in Mice Retinal Pigment Epithelium
06:48

Limbal Approach-Subretinal Injection of Viral Vectors for Gene Therapy in Mice Retinal Pigment Epithelium

Published on: August 7, 2015

Electroporation-Based Genetic Modification of Primary Human Pigment Epithelial Cells Using the Sleeping Beauty Transposon System
07:04

Electroporation-Based Genetic Modification of Primary Human Pigment Epithelial Cells Using the Sleeping Beauty Transposon System

Published on: February 4, 2021

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

Area of Science:

  • Ophthalmology
  • Genetics
  • Molecular Biology

Background:

  • Choroideremia (CHM) is a rare, X-linked genetic disorder causing progressive vision loss due to retinal degeneration.
  • Current treatments for CHM are limited, necessitating the exploration of novel therapeutic strategies.

Framework:

  • This review synthesizes expert opinions and current literature on ocular gene therapy for CHM.
  • It highlights the pathophysiology of choroideremia and emerging treatment trends.

Implementation:

  • Gene therapy approaches are being developed to target the genetic defect in choroideremia.
  • Challenges include the complexity of retinal disease and the need for precise gene delivery.

Implications:

  • Early gene therapy trials for choroideremia are in progress, with results pending.
  • These trials may provide critical insights into treating retinal dystrophies and preserving vision.