Prevalence of genetic variants among primary open angle glaucoma patients in North West Rajasthan

Authors

  • Raunaq Poonia Senior Resident, Department of Ophthalmology, Sarder Patel Medical College (SPMC), SP Medical College Rd, PBM Hospital, Bikaner, Rajasthan 334001 India
  • Anju Kochar Senior Professor, Department of Ophthalmology, Sarder Patel Medical College (SPMC), SP Medical College Rd, PBM Hospital, Bikaner, Rajasthan 334001 India
  • Nabab Ali Khan Associate Professor, Department of Ophthalmology, Sarder Patel Medical College (SPMC), SP Medical College Rd, PBM Hospital, Bikaner, Rajasthan 334001 India
  • Deepchand Saini Medical officer, Department of Ophthalmology, Sarder Patel Medical College (SPMC), SP Medical College Rd, PBM Hospital, Bikaner, Rajasthan 334001 India

Keywords:

Primary open angle glaucoma, myocillin, optineurin, WDR36, mutation

Abstract

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.

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Published

2021-11-30

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Original Research Articles

How to Cite

1.
Prevalence of genetic variants among primary open angle glaucoma patients in North West Rajasthan. Int Jour of Biomed Res [Internet]. 2021 Nov. 30 [cited 2025 Jul. 26];12(12):e5689. Available from: https://ssjournals.co.in/index.php/ijbr/article/view/5689