Myocilin Mutations in Glaucoma Patients from Kanyakumari, India
Author Information
Author(s): Rose Rajiv Karthikeyan Muthusamy Anandan Balakrishnan Jayaraman Gopalswamy
Primary Institution: Department of Genetics, Dr. ALM PGIBMS, University of Madras
Hypothesis
The study aims to determine the role of MYOC gene mutations in primary open angle glaucoma (POAG) patients from Kanyakumari district.
Conclusion
The presence of MYOC gene mutations suggests a causative role in POAG among patients in Kanyakumari district, with a mutation frequency of 2%.
Supporting Evidence
- Two mutations, Ser331Thr and Pro370Leu, were found in one patient each.
- The mutation frequency of 2% aligns with other reports from India.
- The study is the first to investigate MYOC mutations in the Kanyakumari district.
Takeaway
Doctors looked at the genes of people with a type of eye disease called glaucoma to see if there were any changes that could cause the disease. They found some changes in a gene that might be linked to glaucoma.
Methodology
The MYOC gene was screened using PCR-SSCP methodology followed by DNA sequencing in 100 POAG patients.
Limitations
The study is limited to a specific geographic area and may not represent the mutation frequency in other regions.
Participant Demographics
87 adult onset cases and 13 juvenile onset cases, with 25 patients having a family history of POAG.
Want to read the original?
Access the complete publication on the publisher's website