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

Genetic Lingo01:11

Genetic Lingo

118.4K
Overview
118.4K
Photoreceptors and Visual Pathways01:22

Photoreceptors and Visual Pathways

11.2K
At the molecular level, visual signals trigger transformations in photopigment molecules, resulting in changes in the photoreceptor cell's membrane potential. The photon's energy level is denoted by its wavelength, with each specific wavelength of visible light associated with a distinct color. The spectral range of visible light, classified as electromagnetic radiation, spans from 380 to 720 nm. Electromagnetic radiation wavelengths exceeding 720 nm fall under the infrared category,...
11.2K
Glaucoma: Overview01:25

Glaucoma: Overview

1.7K
Glaucoma is an eye condition characterized by increased intraocular pressure that damages the retina and optic nerve, leading to irreversible blindness if left untreated. The human eye has various components, including the cornea, iris, pupil, lens, and optic nerve. Aqueous humor is secreted by the epithelium of the ciliary body in the posterior chamber and flows through the trabecular meshwork and canal of Schlemm, maintaining normal intraocular pressure. The trabecular meshwork and the canal...
1.7K
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

5.0K
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,...
5.0K
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

2.9K
2.9K
Accessory Structures of the Eye01:17

Accessory Structures of the Eye

4.5K
Optical perception, or vision, is an extraordinary sense dependent on converting light signals received via the ocular organs. These organs, known as eyes, are securely positioned within the bony cavities of the skull, called orbits. The orbits serve a dual purpose: a protective shield for the ocular globes and a stable attachment point for the soft ocular tissues. The eye's external protective mechanisms include the eyelids, which are edged with lashes that act as a barrier against foreign...
4.5K

You might also read

Related Articles

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

Sort by
Same author

Erratum: Genome Editing in Patient iPSCs Corrects the Most Prevalent <i>USH2A</i> Mutations and Reveals Intriguing Mutant mRNA Expression Profiles.

Molecular therapy. Methods & clinical developmentยท2025
Same author

Genome Editing in Patient iPSCs Corrects the Most Prevalent <i>USH2A</i> Mutations and Reveals Intriguing Mutant mRNA Expression Profiles.

Molecular therapy. Methods & clinical developmentยท2020
Same author

A Novel Chromosomal Translocation Identified due to Complex Genetic Instability in iPSC Generated for Choroideremia.

Cellsยท2019
Same author

Generation of a human iPSC line, INMi004-A, with a point mutation in CRX associated with autosomal dominant Leber congenital amaurosis.

Stem cell researchยท2019
Same author

Generation of a human iPSC line, INMi003-A, with a missense mutation in CRX associated with autosomal dominant cone-rod dystrophy.

Stem cell researchยท2019
Same author

Generation of a human iPSC line, INMi002-A, carrying the most prevalent USH2A variant associated with Usher syndrome type 2.

Stem cell researchยท2018
Same journal

[Prolonged fever].

La Revue du praticienยท2026
Same journal

[Lower gastrointestinal bleeding].

La Revue du praticienยท2026
Same journal

[Management of antiplatelet agents and oral anticoagulants in cases of gastrointestinal bleeding].

La Revue du praticienยท2026
Same journal

[A history of child abuse intervention inย the West].

La Revue du praticienยท2026
Same journal

[Agranulocytose mรฉdicamenteuse].

La Revue du praticienยท2026
Same journal

[Patient education in heart failure].

La Revue du praticienยท2026
See all related articles

Related Experiment Video

Updated: Apr 11, 2026

Optical Coherence Tomography: Imaging Mouse Retinal Ganglion Cells In Vivo
08:17

Optical Coherence Tomography: Imaging Mouse Retinal Ganglion Cells In Vivo

Published on: September 22, 2017

20.4K

[Genetic ocular diseases].

Christian P Hamel

    La Revue Du Praticien
    |June 11, 2015
    PubMed
    Summary
    This summary is machine-generated.

    Genetic ocular diseases, affecting various eye tissues, are inherited conditions impacting vision. Promising gene therapies and retinal prostheses are in clinical trials for potential visual restoration.

    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

    2.6K
    Intravitreal Injections in the Ovine Eye
    03:37

    Intravitreal Injections in the Ovine Eye

    Published on: July 5, 2022

    4.3K

    Related Experiment Videos

    Last Updated: Apr 11, 2026

    Optical Coherence Tomography: Imaging Mouse Retinal Ganglion Cells In Vivo
    08:17

    Optical Coherence Tomography: Imaging Mouse Retinal Ganglion Cells In Vivo

    Published on: September 22, 2017

    20.4K
    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

    2.6K
    Intravitreal Injections in the Ovine Eye
    03:37

    Intravitreal Injections in the Ovine Eye

    Published on: July 5, 2022

    4.3K

    Area of Science:

    • Ophthalmology
    • Genetics
    • Molecular Biology

    Context:

    • Genetic ocular diseases are inherited Mendelian conditions with a prevalence of 1 in 1000.
    • These conditions can affect any ocular tissue, including the cornea, lens, retina, and sclera.
    • Over 200 genes are implicated in inherited retinal dystrophies, with more yet to be discovered.

    Purpose:

    • To provide an overview of genetic ocular diseases and their genetic basis.
    • To highlight current therapeutic strategies for inherited retinal dystrophies.
    • To discuss the potential of emerging treatments for visual restoration.

    Summary:

    • Genetic ocular diseases encompass a range of inherited conditions affecting diverse eye structures.
    • Inherited retinal dystrophies are linked to numerous genes involved in photoreceptor function.
    • Gene therapy and retinal prostheses represent cutting-edge clinical trial interventions.

    Impact:

    • Advances in understanding the genetic underpinnings of ocular diseases.
    • Development of novel therapeutic avenues for previously untreatable conditions.
    • Potential for significant visual improvement in patients with genetic vision loss.