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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...
Genetic Screens02:46

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...
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...

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Related Experiment Video

Updated: Jun 18, 2026

Assessing Early Stage Open-Angle Glaucoma in Patients by Isolated-Check Visual Evoked Potential
07:11

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Published on: May 25, 2020

[Gene screening as the forewarning measure to predict glaucoma].

Yan-Tao Wei1, Ye-Hong Zhuo, Yi-Qing Li

  • 1Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou 510060, China.

[Zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology
|December 5, 2009
PubMed
Summary

Genetic screening for the myocilin gene mutation effectively forewarns of familial open-angle glaucoma. This genetic diagnosis aids in early detection and monitoring of the disease in at-risk family members.

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Area of Science:

  • Ophthalmology
  • Genetics
  • Medical Diagnostics

Background:

  • Familial open-angle glaucoma (FOAG) poses a significant risk to relatives of affected individuals.
  • Early detection and monitoring are crucial for managing FOAG and preventing vision loss.

Purpose of the Study:

  • To evaluate the efficacy of gene screening in the early detection and monitoring of FOAG within a pedigree.
  • To assess the myocilin gene's role in the development of FOAG.

Main Methods:

  • Comprehensive ophthalmic examinations were conducted on all available family members.
  • Genomic DNA was extracted from blood samples for direct sequencing of the myocilin gene.
  • Mutation screening identified carriers of specific gene variants, followed by long-term patient monitoring.

Main Results:

  • A C to T transition in exon 3 of the myocilin gene (Pro370Leu) was identified in 5 out of 12 family members.
  • Mutation carriers initially showed no abnormalities in optic disc, RNFL thickness, or visual field parameters.
  • All mutation carriers were subsequently diagnosed with open-angle glaucoma during follow-up.

Conclusions:

  • Genetic diagnosis of the myocilin gene mutation demonstrates high specificity and sensitivity for FOAG.
  • Gene screening is a valuable tool for presymptomatic diagnosis and forewarning in familial open-angle glaucoma pedigrees.
  • This approach facilitates timely intervention and monitoring in at-risk individuals.