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

Polymorphisms in OPA1 are associated with normal tension glaucoma.

Brenda L Powell1, Carmel Toomes, Shiela Scott

  • 1Division of Ophthalmology, University of Bristol, Bristol, United Kingdom.

Molecular Vision
|October 11, 2003
PubMed
Summary

Genetic variations in the OPA1 gene intron 8 are linked to normal tension glaucoma (NTG). A specific CC genotype at position +32 acts as a potential marker for NTG risk.

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

Design and methods of the Third Australian Study of Health and Relationships (ASHR3): a nationally representative sexual and reproductive health survey.

Sexual health·2026
Same author

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.

Nature genetics·2026
Same author

SARS-CoV-2 breakthrough infection among people with and without HIV in Ontario, Canada.

AIDS (London, England)·2026
Same author

Analysis of familial exudative vitreoretinopathy (FEVR) cases in the UK 100 000 genomes project increases diagnostic rate and implicates heterozygous <i>CTNND1</i> mutations in FEVR.

Journal of medical genetics·2025
Same author

RetiGene, a comprehensive gene atlas for inherited retinal diseases.

American journal of human genetics·2025
Same author

RetiGene, a comprehensive gene atlas for inherited retinal diseases (IRDs).

bioRxiv : the preprint server for biology·2025

Area of Science:

  • Ophthalmology
  • Genetics
  • Molecular Biology

Background:

  • Normal tension glaucoma (NTG) is a progressive optic neuropathy characterized by vision loss without elevated intraocular pressure.
  • Genetic factors are implicated in the pathogenesis of NTG, but specific genetic markers remain to be fully elucidated.

Purpose of the Study:

  • To investigate the association between specific polymorphisms in intron 8 (IVS8) of the OPA1 gene and normal tension glaucoma (NTG).
  • To determine if OPA1 gene variations serve as a genetic marker for NTG susceptibility.

Main Methods:

  • A cohort study involving 61 NTG patients and 49 healthy controls.
  • DNA sequencing of the OPA1 gene at positions +4 and +32 in IVS8.
  • Statistical comparison of genotype frequencies between NTG and control groups.

Related Experiment Videos

Main Results:

  • No significant difference in OPA1 genotypes at the +4 position between NTG patients and controls.
  • A statistically significant difference in OPA1 genotypes at the +32 position was observed (p=0.006).
  • The CC genotype at +32 was more frequent in NTG patients (28%) compared to controls (13%).

Conclusions:

  • A specific CC genotype at position +32 in OPA1 intron 8 is identified as a potential genetic marker for NTG.
  • Early identification of individuals at risk for NTG could facilitate timely screening and treatment to prevent irreversible vision loss.