A particular "mutant gene" that is causing more Indians to suffer from glaucoma has been identified by a team of eye surgeons in Maharashtra. Over 50% of glaucoma cases remain undiagnosed until irreversible optic nerve damage has occurred. This finding has paved a new for developing screening tools which could help in early diagnosis and possible treatment.

The research is an ongoing collaborative project among eye surgeons in Pune, Sangli, along with researchers in Ireland. The Institutional Review Board and Ethics Committee at PBMA′s H.V. Desai Eye Hospital, Deenanath Mangeshkar Hospital, Pune, and the Indian Council of Medical Council (ICMR), New Delhi, have approved the study.

The study′s lead investigator Dr Chitra Sambare said that the findings concluded that over-expression of some mutant (LOXL1) proteins (R141L and G153D) in the eye cell line could result in altered processing resulting in developing glaucoma.

Over-expression of some mutant (LOXL1) proteins (R141L and G153D) in the eye cell line could result in altered processing resulting in developing glaucoma. Such a mutation could be a contributing factor for the development of glaucoma in addition to other risk factors, including raised intraocular pressure, oxidative stress and ultraviolet (UV) light. Besides, family history of glaucoma was also a strong predictor and a potentially useful tool in clinical risk assessment.

Among the different forms of glaucoma, pseudoexfoliation glaucoma (XFG) is the most common form of open-angle glaucoma. The specific genetic mutation identified by the researchers was significantly linked with the XFG, which is known for aggressive and rapid loss of vision.

Dr Aditya Kelkar of the National Institute of Ophthalmology, who is one of the study′s key researchers, said that there was a high prevalence of XFG in the Indian population, especially the western part of India, who carry a variant (mutation) in the LOXL1 gene. The collaborative research has made it clear that the LOXL1 gene was responsible for the significant risk of developing pseudoexfoliation glaucoma.

Source: The Times of India