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 Experiment Videos

Progress in the genetics of glaucoma.

N Weisschuh1, U Schiefer

  • 1Molekulargenetisches Labor Universitäts-Augenklinik Tübingen, Deutschland. nicole.weissschuh@uni-tuebingen.de

Developments in Ophthalmology
|July 25, 2003
PubMed
Summary

Glaucoma is a group of optic neuropathies causing vision loss, affecting over 60 million globally. Research is identifying glaucoma-associated genes, but their functions and pathogenic mechanisms require further study.

Related Concept Videos

You might also read

Related Articles

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

Sort by
Same author

Clinical characteristics of gyrate atrophy compared with a gyrate atrophy-like retinal phenotype.

European journal of ophthalmology·2023
Same author

[New DIN and ISO norms for determination of visual acuity].

Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft·2019
Same author

[Contrast vision-definitions, conversions, and equivalence tables].

Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft·2016
Same author

[Current recommendations on optic neuritis].

Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft·2014
Same author

[Development and first results of fast and cost-effective examination methods for an ophthalmological screening within the National Cohort].

Klinische Monatsblatter fur Augenheilkunde·2013
Same author

[Functional glaucoma diagnostics. An essential criterion for estimating visual impairment and its progression].

Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft·2012

Area of Science:

  • Ophthalmology
  • Genetics
  • Molecular Biology

Background:

  • Glaucoma is a leading cause of irreversible blindness worldwide, affecting over 60 million people.
  • It encompasses a heterogeneous group of optic neuropathies characterized by optic nerve atrophy and vision loss.
  • Hereditary forms of glaucoma are genetically diverse, with primary open-angle glaucoma being the most common type.

Purpose of the Study:

  • To summarize current knowledge on genes associated with various forms of glaucoma.
  • To highlight progress in identifying glaucoma-related genes and mutations.
  • To underscore the need for further research into gene function and pathogenic mechanisms.

Main Methods:

  • Review of existing literature on glaucoma genetics.
  • Identification of known glaucoma-associated loci and genes.
  • Analysis of genetic heterogeneity in different glaucoma subtypes.

Main Results:

  • At least eight glaucoma loci (GLC1A-F, GLC3A/B) have been linked to the disease.
  • Three genes (MYOC, CYP1B1, OPTN) have been identified as causative in certain glaucoma forms.
  • Significant advancements have been made in gene discovery and mutation detection across diverse ethnic populations.

Conclusions:

  • Despite progress, the functional roles of mutated glaucoma genes and their pathogenic pathways remain largely unknown.
  • Continued research is crucial for understanding glaucoma's molecular basis and developing targeted therapies.
  • Further investigation into gene function and disease mechanisms is essential for advancing glaucoma treatment.

Related Experiment Videos