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

Different optineurin mutation pattern in primary open-angle glaucoma.

Yuk Fai Leung1, Bao Jian Fan, Dennis S C Lam

  • 1Department of Ophthalmology and Visual Sciences, the Chinese University of Hong Kong, Hong Kong, China.

Investigative Ophthalmology & Visual Science
|August 27, 2003
PubMed
Summary
This summary is machine-generated.

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

Association of baseline brain care score with the incidence of age-related eye diseases.

Eye (London, England)·2026
Same author

Correlations between Clinical Activity Score and Serological and Radiological Data in Treatment-naïve Ethnic Han Chinese Thyroid Eye Disease.

Ophthalmic research·2026
Same author

Association between secondhand smoke exposure and ocular microbiome changes in children.

Current research in microbial sciences·2026
Same author

Associations of Multiomics Biological Aging With Diabetic Retinopathy and Life Expectancy.

Investigative ophthalmology & visual science·2026
Same author

An AI-Based OCT System to Detect Diabetic Macular Edema: A Prospective Validation and Noninferiority Randomized Clinical Trial.

JAMA·2026
Same author

Thyroid eye disease in paediatric Graves' disease: a case series from the Gulf region with comparison to adults.

International ophthalmology·2026

Optineurin gene (OPTN) mutations are linked to primary open-angle glaucoma (POAG). This study identified novel OPTN variants in Chinese POAG patients, suggesting a distinct mutation pattern and highlighting OPTN

Area of Science:

  • Ophthalmology
  • Genetics
  • Molecular Biology

Background:

  • Primary open-angle glaucoma (POAG) is a leading cause of irreversible blindness worldwide.
  • Mutations in the optineurin gene (OPTN) have been implicated in POAG pathogenesis.
  • Understanding genetic factors in diverse populations is crucial for glaucoma research.

Purpose of the Study:

  • To investigate sequence alterations in the OPTN gene associated with POAG in a Chinese cohort.
  • To identify novel mutations and assess their prevalence in Chinese patients with POAG.

Main Methods:

  • Screening of all coding exons and intron-exon boundaries of the OPTN gene.
  • Utilized polymerase chain reaction-conformation-sensitive gel electrophoresis and DNA sequencing.
  • Analyzed a sample of 119 sporadic POAG patients and 126 unrelated controls.

Related Experiment Videos

Main Results:

  • Identified 16 sequence changes in the OPTN gene, including 13 novel alterations.
  • Found specific variants (E103D, H486R, V148V, IVS13+21C-->G) exclusively in POAG patients.
  • The IVS7+24G-->A genotype showed a significant association with POAG and increased cup-to-disc ratio.

Conclusions:

  • Reinforces the role of the OPTN gene in the etiology of POAG.
  • Suggests a distinct OPTN mutation pattern in the Chinese population compared to Caucasian populations.
  • Indicates that structural and functional disruptions in OPTN contribute to glaucoma pathogenesis.