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

Anatomy of the Eyeball01:20

Anatomy of the Eyeball

9.2K
The eye is a spherical, hollow structure composed of three tissue layers. The outer layer — the fibrous tunic, comprises the sclera — a white structure — and the cornea, which is transparent. The sclera encompasses some of the ocular surface, most of which is not visible. However, the 'white of the eye' is distinctively visible in humans compared to other species. The cornea, a clear covering at the front of the eye, enables light penetration. The eye's middle...
9.2K

You might also read

Related Articles

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

Sort by
Same author

Germline pathogenic variants associated with prostate cancer susceptibility in a Spanish cohort: emergence of new key players.

Scientific reports·2026
Same author

Delineating the clinical and molecular spectrum of the neurodevelopmental disorder associated with SET.

Genetics in medicine : official journal of the American College of Medical Genetics·2026
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

Erratum to 'BCLC strategy for prognosis prediction and treatment recommendations: The 2026 update' [J Hepatol (2026) 631-654].

Journal of hepatology·2026
Same author

Accurate and cost-effective workflow integrating trio pooled-WES for novel gene discovery in neurodevelopmental disorders.

European journal of human genetics : EJHG·2026

Related Experiment Video

Updated: Dec 23, 2025

Author Spotlight: Ex Vivo OCT-Based Multimodal Imaging of Human Donor Eyes for Research into Age-Related Macular Degeneration
10:14

Author Spotlight: Ex Vivo OCT-Based Multimodal Imaging of Human Donor Eyes for Research into Age-Related Macular Degeneration

Published on: May 26, 2023

4.0K

Retinal Structure in RPE65-Associated Retinal Dystrophy.

Neruban Kumaran1,1,1, Michalis Georgiou1,1, James W B Bainbridge1,1

  • 1,.

Investigative Ophthalmology & Visual Science
|April 30, 2020
PubMed
Summary

This study characterized retinal degeneration in RPE65-associated retinal dystrophy (RPE65-RD). Ellipsoid zone width (EZW) and area (EZA) were robust measures, showing significant correlation with visual acuity and retinal sensitivity.

More Related Videos

A Protocol to Evaluate and Quantify Retinal Pigmented Epithelium Pathologies in Mouse Models of Age-Related Macular Degeneration
09:24

A Protocol to Evaluate and Quantify Retinal Pigmented Epithelium Pathologies in Mouse Models of Age-Related Macular Degeneration

Published on: March 10, 2023

2.2K
Retinal Pigment Epithelium Transplantation in a Non-human Primate Model for Degenerative Retinal Diseases
11:20

Retinal Pigment Epithelium Transplantation in a Non-human Primate Model for Degenerative Retinal Diseases

Published on: June 14, 2021

4.2K

Related Experiment Videos

Last Updated: Dec 23, 2025

Author Spotlight: Ex Vivo OCT-Based Multimodal Imaging of Human Donor Eyes for Research into Age-Related Macular Degeneration
10:14

Author Spotlight: Ex Vivo OCT-Based Multimodal Imaging of Human Donor Eyes for Research into Age-Related Macular Degeneration

Published on: May 26, 2023

4.0K
A Protocol to Evaluate and Quantify Retinal Pigmented Epithelium Pathologies in Mouse Models of Age-Related Macular Degeneration
09:24

A Protocol to Evaluate and Quantify Retinal Pigmented Epithelium Pathologies in Mouse Models of Age-Related Macular Degeneration

Published on: March 10, 2023

2.2K
Retinal Pigment Epithelium Transplantation in a Non-human Primate Model for Degenerative Retinal Diseases
11:20

Retinal Pigment Epithelium Transplantation in a Non-human Primate Model for Degenerative Retinal Diseases

Published on: June 14, 2021

4.2K

Area of Science:

  • Ophthalmology
  • Genetics
  • Medical Imaging

Background:

  • RPE65-associated retinal dystrophy (RPE65-RD) is a severe, early-onset inherited retinal disease.
  • Understanding its natural history is crucial for developing and evaluating treatments.

Purpose of the Study:

  • To characterize the natural history of retinal degeneration in individuals with RPE65-RD.
  • To assess the utility of optical coherence tomography (OCT) and fundus autofluorescence (FAF) imaging in quantifying disease progression.

Main Methods:

  • Cross-sectional and longitudinal imaging using spectral domain optical coherence tomography (SD-OCT) and FAF.
  • Quantitative analysis of retinal layers, including foveal thickness (FT), outer nuclear layer thickness (ONLT), ellipsoid zone width (EZW), and ellipsoid zone area (EZA).
  • Correlation of imaging metrics with age, best corrected visual acuity (BCVA), and retinal sensitivity (V30).

Main Results:

  • Structural interocular symmetry was observed.
  • Foveal hypoplasia was present in 50% of subjects, correlating with worse BCVA.
  • EZW and EZA demonstrated good repeatability and were measurable in a significant proportion of eyes.
  • Annual progression rates for EZW and EZA were -300.63 µm/year and -1.17 mm²/year, respectively.
  • EZW showed a statistically significant correlation with BCVA and V30.

Conclusions:

  • EZW and EZA are robust measures of retinal degeneration in RPE65-RD.
  • These metrics are valuable for assessing the impact of potential interventions.
  • Autofluorescence and foveal hypoplasia are common findings in this cohort.