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

MotionDPS: Motion-Compensated 3D Brain MRI Reconstruction.

IEEE transactions on medical imaging·2026
Same author

APTw CEST MRI in therapy-naive IDH-wildtype glioblastoma: insights into tumor heterogeneity and molecular subtypes.

Journal of neuro-oncology·2026
Same author

Evaluation of aggressive posterior retinopathy of prematurity (AP-ROP) in the German Retina.net ROP registry.

Frontiers in medicine·2026
Same author

<i>CACNB3</i> defects are associated with infantile idiopathic nystagmus.

Brain communications·2026
Same author

Chorioretinal Atrophy after Voretigene Neparvovec Therapy in <italic>RPE65</italic> Mutation-Associated Inherited Retinal Disease: Longitudinal Characterization in Multimodal Imaging.

Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde·2025
Same author

Addressing unmet needs in pregnancy and family planning of people living with rare and low-prevalence diseases: results of the "ERN transversal working group on pregnancy and family planning" survey.

Reproductive health·2025
Same journal

Sigma 1 Receptor Activation Coordinates Metabolic Stress Responses to Protect Retinal Vasculature in Ischemic Retinopathy.

Investigative ophthalmology & visual science·2026
Same journal

On the Misuse of Virus-Transformed Human Corneal Epithelial Cells as Surrogates for Normal Cells.

Investigative ophthalmology & visual science·2026
Same journal

Human Crystallin Variation and Cataract.

Investigative ophthalmology & visual science·2026
Same journal

Evaluating the Effect on Emmetropization of the Timing and Spectrum of Breaks From a Myopiagenic Environment.

Investigative ophthalmology & visual science·2026
Same journal

Associations Between Serum Uric Acid Levels and Glaucoma: Results From the LifeLines Cohort and UK Biobank.

Investigative ophthalmology & visual science·2026
Same journal

Comprehensive, High-Spatiotemporal-Resolution Intravital Two-Photon Imaging of the Mouse Conventional Outflow Pathway: Green Intravital Imaging.

Investigative ophthalmology & visual science·2026
See all related articles

Related Experiment Video

Updated: May 7, 2025

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

19.1K

Deep Learning-Based SD-OCT Layer Segmentation Quantifies Outer Retina Changes in Patients With Biallelic RPE65

German Pinedo-Diaz1, Birgit Lorenz2,3, Sandrine H Künzel2

  • 1Center for Research and Advanced Studies, Cinvestav, Zapopan, Mexico.

Investigative Ophthalmology & Visual Science
|January 2, 2025
PubMed
Summary
This summary is machine-generated.

Deep learning identified novel biomarkers for RPE65-inherited retinal degeneration (RPE65-IRD). Gene therapy with voretigene neparvovec preserved outer retina structure, especially in pediatric patients.

More Related Videos

Ultrahigh Resolution Mouse Optical Coherence Tomography to Aid Intraocular Injection in Retinal Gene Therapy Research
10:10

Ultrahigh Resolution Mouse Optical Coherence Tomography to Aid Intraocular Injection in Retinal Gene Therapy Research

Published on: November 2, 2018

9.1K
Subretinal Transplantation of Human Embryonic Stem Cell Derived-retinal Pigment Epithelial Cells into a Large-eyed Model of Geographic Atrophy
11:03

Subretinal Transplantation of Human Embryonic Stem Cell Derived-retinal Pigment Epithelial Cells into a Large-eyed Model of Geographic Atrophy

Published on: January 22, 2018

9.9K

Related Experiment Videos

Last Updated: May 7, 2025

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

19.1K
Ultrahigh Resolution Mouse Optical Coherence Tomography to Aid Intraocular Injection in Retinal Gene Therapy Research
10:10

Ultrahigh Resolution Mouse Optical Coherence Tomography to Aid Intraocular Injection in Retinal Gene Therapy Research

Published on: November 2, 2018

9.1K
Subretinal Transplantation of Human Embryonic Stem Cell Derived-retinal Pigment Epithelial Cells into a Large-eyed Model of Geographic Atrophy
11:03

Subretinal Transplantation of Human Embryonic Stem Cell Derived-retinal Pigment Epithelial Cells into a Large-eyed Model of Geographic Atrophy

Published on: January 22, 2018

9.9K

Area of Science:

  • Ophthalmology
  • Genetics
  • Medical Imaging

Background:

  • Inherited retinal degenerations (IRDs) encompass a group of genetic disorders affecting photoreceptor cells.
  • RPE65 mutations cause a severe form of IRD, leading to progressive vision loss.
  • Subretinal gene therapy with voretigene neparvovec offers a potential treatment for RPE65-IRD.

Purpose of the Study:

  • To quantify outer retina structural changes in RPE65-IRD.
  • To define novel biomarkers for RPE65-IRD using advanced imaging.
  • To evaluate the effects of voretigene neparvovec therapy on these biomarkers.

Main Methods:

  • Applied deep learning for automated retinal layer segmentation in RPE65-IRD patients.
  • Quantified ellipsoid zone (EZ) biomarkers: thickness, granularity, reflectivity, intensity, and area.
  • Compared structural data from 22 RPE65-IRD patients with 94 healthy controls.

Main Results:

  • Significant structural differences in EZ biomarkers were found between RPE65-IRD patients and controls.
  • EZ intensities were reduced in pediatric RPE65-IRD eyes; granularity and thickness reductions were significant in adults.
  • Outer retinal layer distances to EZ were reduced across all ages; EZ area was better preserved in treated pediatric eyes.

Conclusions:

  • Automated quantitative analysis using deep learning reveals distinct outer retina structural changes in RPE65-IRD.
  • This approach enables big data analysis for various IRDs.
  • Gene therapy with voretigene neparvovec demonstrates a protective effect on outer retinal structure.