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

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...
Open Angle Glaucoma: Treatment01:27

Open Angle Glaucoma: Treatment

In open-angle glaucoma, the iridocorneal angle remains open, but the trabecular meshwork becomes stiff, slowing down the outflow of aqueous humor. This causes a buildup of aqueous humor in the anterior chamber, leading to a sudden increase in intraocular pressure. The treatment for open-angle glaucoma focuses on reducing the elevated intraocular pressure by either decreasing the secretion of aqueous humor or increasing its outflow.
Drugs such as carbonic anhydrase inhibitors, α2- and...
Angle Closure Glaucoma: Treatment01:28

Angle Closure Glaucoma: Treatment

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...
Genetic Lingo01:11

Genetic Lingo

Overview

You might also read

Related Articles

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

Sort by
Same author

Predicting TP53 Biomarkers from Whole Slide Images across Human Solid Tumors Using Weakly Supervised Learning.

The American journal of pathology·2026
Same author

An optimised lipid nanoparticle platform enables efficient CRISPR/Cas9 genome editing in hard-to-transfect cells.

Acta biomaterialia·2026
Same author

Fourth-generation gene editors: Integration-based genome engineering.

Molecular therapy. Advances·2026
Same author

Multi-Ancestry, Multitrait Polygenic Risk Scores for Myopia: Improved Accuracy and Clinical Potential.

Twin research and human genetics : the official journal of the International Society for Twin Studies·2026
Same author

Patient induced pluripotent stem cells identify specificities of a reticular pseudodrusen phenotype in age-related macular degeneration.

Genome medicine·2026
Same author

The impact of sex on the immune system explored at the single-cell level.

American journal of human genetics·2026

Related Experiment Video

Updated: Jul 10, 2026

Laser Capture Microdissection of Highly Pure Trabecular Meshwork from Mouse Eyes for Gene Expression Analysis
13:47

Laser Capture Microdissection of Highly Pure Trabecular Meshwork from Mouse Eyes for Gene Expression Analysis

Published on: June 3, 2018

Myocilin allele-specific glaucoma phenotype database.

Alex W Hewitt1, David A Mackey, Jamie E Craig

  • 1Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, Australia.

Human Mutation
|October 30, 2007
PubMed
Summary
This summary is machine-generated.

Genetic variants in the myocilin (MYOC) gene are linked to primary open-angle glaucoma (POAG). A new online catalog details MYOC variants and their associated phenotypes, aiding genetic counseling for this optic nerve disease.

More Related Videos

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

Related Experiment Videos

Last Updated: Jul 10, 2026

Laser Capture Microdissection of Highly Pure Trabecular Meshwork from Mouse Eyes for Gene Expression Analysis
13:47

Laser Capture Microdissection of Highly Pure Trabecular Meshwork from Mouse Eyes for Gene Expression Analysis

Published on: June 3, 2018

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

Area of Science:

  • Ophthalmology
  • Genetics
  • Bioinformatics

Background:

  • Glaucoma is a leading cause of optic nerve blindness globally.
  • Mutations in the myocilin (MYOC) gene are implicated in juvenile and primary open-angle glaucoma (POAG).
  • Over 180 MYOC variants have been identified, with approximately 1 in 30 POAG patients carrying a disease-causing mutation.

Purpose of the Study:

  • To compile an online, locus-specific catalog of myocilin variants and their associated phenotypes.
  • To provide a centralized resource for researchers and clinicians studying MYOC-related glaucoma.
  • To facilitate genetic counseling by detailing genotype-phenotype correlations.

Main Methods:

  • Development of an online database (www.myocilin.com) using MySQL.
  • Inclusion of data on variant identification, source information, and relevant study data.
  • Presentation of genomic information, variant lists, summary statistics, and phenotypic data.

Main Results:

  • The database catalogs over 180 MYOC variants.
  • Approximately 40% of identified variants are disease-causing, predominantly missense mutations (85%).
  • Preliminary data confirm strong genotype-phenotype correlations for specific MYOC mutations.

Conclusions:

  • The online myocilin variant catalog is a valuable resource for understanding glaucoma genetics.
  • This resource supports accurate genetic counseling and clinical translation of genomic findings.
  • Continued submissions to the catalog will enhance its comprehensiveness.