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

Glaucoma: Overview01:25

Glaucoma: Overview

478
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...
478
Angle Closure Glaucoma: Treatment01:28

Angle Closure Glaucoma: Treatment

385
Angle-closure glaucoma, or closed-angle glaucoma, is an eye condition where the iris bulges out and blocks the iridocorneal angle, resulting in a buildup of aqueous humor and increased intraocular pressure. Immediate medical attention is necessary due to the sudden onset of symptoms. The treatment for angle-closure glaucoma includes short-term and long-term approaches. Short-term treatment involves using eye drops like pilocarpine to lower intraocular pressure by increasing aqueous humor...
385
Photoreceptors and Visual Pathways01:22

Photoreceptors and Visual Pathways

5.5K
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,...
5.5K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

12.1K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
12.1K

You might also read

Related Articles

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

Sort by
Same author

RERconverge Update: Runtime Reduction and Analysis Function Overhaul.

bioRxiv : the preprint server for biology·2026
Same author

Gillespie syndrome caused by a novel <i>ITPR1</i> gene variant: a phenotype-genotype correlation.

Ophthalmic genetics·2026
Same author

Association of Autosomal Dominant Snowflake Vitreoretinal Degeneration with Retinoschisis.

Ophthalmology science·2026
Same author

Gelatinous drop-like amyloid in FOXC2 distichiasis syndrome: a case report.

BMC ophthalmology·2026
Same author

Lipemia retinalis: a case study of a rare finding in pediatric retina secondary to diabetes.

Canadian journal of ophthalmology. Journal canadien d'ophtalmologie·2026
Same author

Eye care adherence in pediatric and elderly: Understanding and addressing the challenges.

Progress in retinal and eye research·2026

Related Experiment Video

Updated: May 12, 2025

Iris Fixation via External Pentagram Suturing
05:22

Iris Fixation via External Pentagram Suturing

Published on: May 5, 2022

1.2K

Congenital Aphakia Associated With a GJA8 Pathogenic Variant: A Case Report.

Sarah A M Lucas1, Elena Franco2, Hannah L Scanga2

  • 1Department of Human Genetics University of Utah Salt Lake City Utah USA.

Clinical Case Reports
|May 7, 2025
PubMed
Summary

Congenital aphakia is a rare genetic eye condition where the lens doesn't form correctly. Genetic testing should include the GJA8 gene, as variants in this gene are associated with the condition.

Keywords:
GJA8congenital aphakiacongenital corneal opacitiesgenetic corneal diseaseocular genetics

More Related Videos

Visualization of the Superior Ocular Sulcus during Danio rerio Embryogenesis
08:03

Visualization of the Superior Ocular Sulcus during Danio rerio Embryogenesis

Published on: March 27, 2019

5.3K
Author Spotlight: Advancements in Refractive Surgical Correction for Presbyopia and Exploring Postoperative Visual Acuity
05:46

Author Spotlight: Advancements in Refractive Surgical Correction for Presbyopia and Exploring Postoperative Visual Acuity

Published on: September 20, 2024

329

Related Experiment Videos

Last Updated: May 12, 2025

Iris Fixation via External Pentagram Suturing
05:22

Iris Fixation via External Pentagram Suturing

Published on: May 5, 2022

1.2K
Visualization of the Superior Ocular Sulcus during Danio rerio Embryogenesis
08:03

Visualization of the Superior Ocular Sulcus during Danio rerio Embryogenesis

Published on: March 27, 2019

5.3K
Author Spotlight: Advancements in Refractive Surgical Correction for Presbyopia and Exploring Postoperative Visual Acuity
05:46

Author Spotlight: Advancements in Refractive Surgical Correction for Presbyopia and Exploring Postoperative Visual Acuity

Published on: September 20, 2024

329

Area of Science:

  • Ophthalmology
  • Genetics
  • Developmental Biology

Background:

  • Congenital aphakia is a rare ocular disorder characterized by the absence or incomplete formation of the eye lens.
  • This condition significantly impacts vision and can be associated with other ocular abnormalities.
  • The genetic underpinnings of congenital aphakia are complex and not fully elucidated.

Purpose of the Study:

  • To investigate the genetic basis of congenital aphakia.
  • To identify specific genes associated with the development of this rare eye condition.
  • To recommend comprehensive genetic testing strategies for affected individuals.

Main Methods:

  • Review of existing literature on congenital aphakia genetics.
  • Analysis of genetic variants in patients diagnosed with congenital aphakia.
  • Correlation of genotype with clinical phenotype.

Main Results:

  • Pathogenic variants in the FOXE3 and HCCS genes are established causes of congenital aphakia.
  • New evidence links pathogenic variants in the GJA8 gene to congenital aphakia.
  • GJA8 variants represent an additional genetic cause to consider in patients with this condition.

Conclusions:

  • The genetic etiology of congenital aphakia involves multiple genes.
  • GJA8 should be incorporated into the genetic testing panel for congenital aphakia.
  • Accurate genetic diagnosis is crucial for understanding prognosis and potential management.