Prevalence of genetic variants among primary open angle glaucoma patients in North West Rajasthan
Keywords:
Primary open angle glaucoma, myocillin, optineurin, WDR36, mutationAbstract
Introduction: Glaucoma is defined as progressive optic neuropathy leading to irreversible blindness if not treated on time. Primary open angle glaucoma (POAG) is most common form of glaucoma. Mutation in any one of Myocillin (MYOC), Optineurin (OPTN) or WDR36 gene contribute to nearly 4% of the glaucoma cases.
Objective: To establish the disease causative role of the Myocillin, Optineurin and WDR36 genes mutations in POAG.
Methodology: A hospital based observational study was carried out among POAG patients attending OPD. 90 consecutive cases of glaucoma and 35 healthy first degree relatives recruited for study. All patient underwent complete ophthalmic examination followed by genomic DNA (deoxyribonucleic acid) isolation from peripheral blood and quantification of DNA on spectrophotometer. Samples were amplified with each primer by PCR (Polymerase Chain Reaction) technique and amplified DNA and primer sequence checked again by electrophoresis for confirmation of specified gene mutation.
Results: Frequency of MYOC gene mutation was 17.78% (16/90). Out of 35 healthy relatives 3 controls were positive for pathogenic MYOC gene variant. Frequency of OPTN gene mutation was 18.89% (17/90). No control was positive for pathogenic OPTN gene variant. No case was positive for pathogenic WDR36 gene variant.
Conclusion: This study is first of its kind in North India. Early diagnosis and management of high risk family members is needed to prevent the development of vision loss by regular monitoring, thereby making the prognosis better.
Downloads
Downloads
Published
Issue
Section
License
Copyright (c) 2022 International Journal of Biomedical Research

This work is licensed under a Creative Commons Attribution 4.0 International License.
Authors who publish with this journal agree to the following terms:
- Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgment of the work's authorship and initial publication in this journal.
- Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgment of its initial publication in this journal.
- Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work (See The Effect of Open Access).
- An author must submit Copyright form After acceptance of the article.