Related Experiment Video
Updated: Aug 6, 2026
13:47
Laser Capture Microdissection of Highly Pure Trabecular Meshwork from Mouse Eyes for Gene Expression Analysis
Published on: June 3, 2018
Complex genetics of complex traits: the case of primary open-angle glaucoma
Alex W Hewitt1, Jamie E Craig, David A Mackey
1Department of Ophthalmology, Flinders University, Adelaide, South Australia, Australia.
Clinical & Experimental Ophthalmology
|July 29, 2006
Summary
Genetic factors in primary open-angle glaucoma (POAG) are key for early detection. Identifying genetic predispositions can improve screening efficiency for this common eye disease.
Area of Science:
- Ophthalmology and Genetics
- Complex heterogeneous disease mechanisms
- Genetic predisposition in ocular diseases
Background:
- Glaucoma, particularly primary open-angle glaucoma (POAG), is a significant cause of vision impairment.
- Current population-based screening for POAG has limited efficacy.
- Early detection and intervention are crucial for managing POAG.
Purpose of the Study:
- To review the genetic mechanisms unequivocally linked to glaucoma.
- To explore the genetic basis of primary open-angle glaucoma (POAG).
- To discuss potential future genetic discoveries for POAG.
Main Methods:
- Review of existing literature on glaucoma genetics.
- Focus on genetic mutations in known POAG-associated genes (e.g., myocilin, optineurin).
- Analysis of genetic factors contributing to the glaucomatous process.
Main Results:
- Significant progress has been made in understanding POAG linked to myocilin and optineurin mutations.
- However, genes responsible for the majority of POAG cases remain unidentified.
- Genetic investigation is crucial for understanding POAG's complex nature.
Conclusions:
- Identifying individuals with a genetic predisposition for POAG can enable targeted screening.
- Development of efficient and cost-effective population-based screening programs is a future goal.
- Further research is needed to identify additional POAG genes and their mechanisms.
Related Concept Videos
01:25Glaucoma: 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...
01:11Genetic Lingo
Overview
01:27Open 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...
Drugs such as carbonic anhydrase inhibitors, α2- and...
01:28Angle 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...
01:28Human Genetics
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
The complex relationship between genetics and psychology is observable through common biological components such...
01:18Polygenic Traits
When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...