Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Anatomy of the Eyeball

Anatomy of the Eyeball

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...

Photoreceptors and Visual Pathways

Photoreceptors and Visual Pathways

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,...

You might also read

Related Articles

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

Sort by

Same author

PRCD-associated retinitis pigmentosa in dogs and humans.

Experimental eye research·2026

Same author

An n-of-1 gene-directed drug repurposing trial for an ultrarare genetic condition.

Epilepsia·2026

Same author

ABCA4 Versus PRPH2-Associated Retinopathy: Clinical and Electrophysiological Findings.

Investigative ophthalmology & visual science·2026

Same author

Broadening the phenotypic and molecular spectrum of PRS deficiency in females.

HGG advances·2026

Same author

Loss of RPGR disrupts motile cilia and causes primary ciliary dyskinesia by affecting F-actin dynamics.

The Journal of clinical investigation·2026

Same author

Bi-allelic pathogenic variants in <i>NR2E3</i> may be associated with a subtle enhanced S-cone syndrome phenotype.

Ophthalmic genetics·2026

Same journal

Impact of Subretinal Drusenoid Deposits on Ellipsoid Zone-Related Thickness Metrics.

Investigative ophthalmology & visual science·2026

Same journal

Proteomic Profiling of Optic Nerves From SMOX-Deficient Mice Identifies Regulators of Neuroinflammation and Axonal Damage in Optic Neuritis.

Investigative ophthalmology & visual science·2026

Same journal

Aflibercept and Faricimab Equipotently Restore Endothelial Barrier Function.

Investigative ophthalmology & visual science·2026

Same journal

Spatial Decomposition of Longitudinal RNFL Maps Reveals Distinct Modes of Glaucomatous Progression With Structure-Function and Genetic Signatures.

Investigative ophthalmology & visual science·2026

Same journal

The CXXC1-IGFBP6 Axis Maintains Corneal Epithelial Differentiation via H3K4me3-Dependent Transcriptional Activation.

Investigative ophthalmology & visual science·2026

Same journal

Archetypal Visual Field Analysis of Patients With Chronic Leber Hereditary Optic Neuropathy in Relation to Visual Recovery.

Investigative ophthalmology & visual science·2026

See all related articles

Search research articles

Related Experiment Video

Updated: Mar 18, 2026

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

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

Published on: May 26, 2023

Visual Function and Central Retinal Structure in Choroideremia.

Elise Heon¹, Talal Alabduljalil², David B McGuigan III³

¹Department of Ophthalmology and Vision Sciences The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada 2Program of Genetics and Genomic Biology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

Investigative Ophthalmology & Visual Science

|July 14, 2016

Summary

This summary is machine-generated.

This study defines the clinical features of choroideremia, finding that visual acuity and visual field decline with age, particularly after 30. Further research is needed for potential clinical trial outcome measures.

More Related Videos

Application of Optical Coherence Tomography to a Mouse Model of Retinopathy

Application of Optical Coherence Tomography to a Mouse Model of Retinopathy

Published on: January 12, 2022

Retinal Pathophysiological Evaluation in a Rat Model

Retinal Pathophysiological Evaluation in a Rat Model

Published on: May 6, 2022

Related Experiment Videos

Last Updated: Mar 18, 2026

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

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

Published on: May 26, 2023

Application of Optical Coherence Tomography to a Mouse Model of Retinopathy

Application of Optical Coherence Tomography to a Mouse Model of Retinopathy

Published on: January 12, 2022

Retinal Pathophysiological Evaluation in a Rat Model

Retinal Pathophysiological Evaluation in a Rat Model

Published on: May 6, 2022

Area of Science:

Ophthalmology
Genetics
Retinal Diseases

Background:

Choroideremia is a rare, X-linked genetic disorder causing progressive vision loss.
Understanding the natural history and clinical progression is crucial for developing effective treatments.

Purpose of the Study:

To characterize the clinical phenotype of a cohort of patients with choroideremia.
To identify correlations between genotype and phenotype.
To assess the progression of visual function and retinal structure over time.

Main Methods:

Retrospective analysis of data from two centers.
Inclusion of 60 male participants with molecularly confirmed choroideremia.
Collection of data on age, visual acuity, refractive error, color vision, kinetic perimetry, optical coherence tomography (OCT), and genotype.

Main Results:

Nonsense mutations were common; eight novel mutations were identified.
Visual acuity declined significantly with age over 30 years.
Visual field loss progressed rapidly before age 20.
Central retinal thickness correlated with visual acuity and age.
Abnormal OCT findings and outer retinal tubulations were prevalent.
No genotype-phenotype correlation was observed.

Conclusions:

Choroideremia exhibits significant variability in clinical progression.
Certain parameters change with age, supporting the need for prospective natural history studies.
These findings can inform the selection of outcome measures for future interventional clinical trials.