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

Photoreceptors and Visual Pathways01:22

Photoreceptors and Visual Pathways

5.6K
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,...
5.6K

You might also read

Related Articles

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

Sort by
Same author

<i>MERTK</i>-associated retinal dystrophy: clinical course and imaging.

Ophthalmic genetics·2026
Same author

Genetic and Phenotypic Characterization of a Large Cohort of Patients with BBS1-Retinopathy.

Ophthalmology science·2026
Same author

<i>CDH23</i>-associated Usher syndrome: genotype-phenotype correlations.

Ophthalmic genetics·2026
Same author

Analysis of familial exudative vitreoretinopathy (FEVR) cases in the UK 100 000 genomes project increases diagnostic rate and implicates heterozygous <i>CTNND1</i> mutations in FEVR.

Journal of medical genetics·2025
Same author

Clinical Findings and Molecular Genetics of USH1C-Associated Usher Syndrome.

JAMA ophthalmology·2025
Same author

SNRNP200- Associated Retinopathy: In-Depth Clinical Phenotyping and Genetic Characterization.

American journal of ophthalmology·2025

Related Experiment Video

Updated: Jun 3, 2025

Retinal Pathophysiological Evaluation in a Rat Model
09:11

Retinal Pathophysiological Evaluation in a Rat Model

Published on: May 6, 2022

4.5K

Retinal Sensitivity in KCNV2-Associated Retinopathy.

Thales A C de Guimaraes1,2, Isabela M C de Guimaraes3, Manickam Nick Muthiah1,2,4

  • 1UCL Institute of Ophthalmology, University College London, London, United Kingdom.

Investigative Ophthalmology & Visual Science
|January 10, 2025
PubMed
Summary

KCNV2-associated retinopathy shows functional symmetry between eyes. Despite reduced scotopic retinal sensitivity, there is potential for photoreceptor rescue with new therapies like gene therapy.

More Related Videos

Application of Optical Coherence Tomography to a Mouse Model of Retinopathy
08:22

Application of Optical Coherence Tomography to a Mouse Model of Retinopathy

Published on: January 12, 2022

3.9K
Simultaneous ex vivo Functional Testing of Two Retinas by in vivo Electroretinogram System
09:16

Simultaneous ex vivo Functional Testing of Two Retinas by in vivo Electroretinogram System

Published on: May 6, 2015

9.1K

Related Experiment Videos

Last Updated: Jun 3, 2025

Retinal Pathophysiological Evaluation in a Rat Model
09:11

Retinal Pathophysiological Evaluation in a Rat Model

Published on: May 6, 2022

4.5K
Application of Optical Coherence Tomography to a Mouse Model of Retinopathy
08:22

Application of Optical Coherence Tomography to a Mouse Model of Retinopathy

Published on: January 12, 2022

3.9K
Simultaneous ex vivo Functional Testing of Two Retinas by in vivo Electroretinogram System
09:16

Simultaneous ex vivo Functional Testing of Two Retinas by in vivo Electroretinogram System

Published on: May 6, 2015

9.1K

Area of Science:

  • Ophthalmology
  • Genetics
  • Retinal Diseases

Background:

  • KCNV2-associated retinopathy is a rare genetic disorder affecting vision.
  • Understanding the functional impact on retinal sensitivity is crucial for treatment development.

Purpose of the Study:

  • To analyze retinal sensitivity under varying light conditions (photopic, mesopic, scotopic) in patients with KCNV2-associated retinopathy.
  • To assess the symmetry of functional deficits between the eyes.

Main Methods:

  • Cross-sectional study of molecularly confirmed individuals.
  • Microperimetry was used to measure mean sensitivity (MS) and number of floor effects (noF).
  • Analysis included central and peripheral macular zones, with interocular symmetry assessment.

Main Results:

  • Mean sensitivity (MS) showed high interocular symmetry across all light conditions (P < 0.0001).
  • Scotopic conditions revealed a significant increase in floor effects (noF), indicating reduced sensitivity.
  • Age was inversely correlated with MS and directly correlated with noF.

Conclusions:

  • KCNV2-associated retinopathy presents as a functionally symmetric disease.
  • Early decline in scotopic sensitivity is observed, but a therapeutic window for photoreceptor rescue exists.
  • Novel treatments, including gene therapy, show promise for managing this condition.