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This Gene Mutation Can Prevent Glaucoma,which Can Be Diagnosed By Slit Lamp Microscope Easily.
Aug 24, 2017

Glaucoma as the main reason for today's global irreversible blindness, deeply troubled by many people. Recently, one of the largest international research cooperation in glaucoma has so far pointed out the direction for the treatment and prevention of glaucoma. This study, involving more than 120,000 people in 36 countries on six continents around the world, explores a mutant gene that prevents glaucoma by means of deep gene sequencing. The results of this study have recently been published in the journal Nature Genetics.

Exfolining syndrome (XFS) is the most common cause of secondary glaucoma and is a harbinger of open-angle glaucoma that can lead to visual impairment and blindness. This age-related eye disease causes abnormal white spots in the front of the eye (iris, ciliary body, lens and body). XFS is a systemic disorder of extracellular matrix (ECM) due to excessive and gradual accumulation of extracellular substances in tissues. The disease is common in many populations, and it is estimated that there are 6,000 to 70 million people infected worldwide. Exfoliative glaucoma (XFG) often requires laser and surgical interventional therapy, which is the main cause of irreversible

This Gene Mutation Can Prevent Glaucoma,which can be diagnosed by slit lamp microscope.

The family association of XFS patients shows that genetic inheritance is the leading cause of morbidity, and this observation also points out the direction for later glaucoma studies. A study in Iceland in 2007 found that a variant of the common gene LOXL1 showed a close association with XFS. However, the association of such a LOXL1 genetic marker in different populations shows a completely opposite result, so the effect of this variant on health is unclear. In this latest study, the Singapore researchers found a rare protective mutation in the LOXL1 gene. This p.Y407F mutation provides 25 times the protection of XFS, which is by far the most common complex disease seen in the same degree of protection mechanism.


"This is the largest ever study of glaucoma genetic research, with the participation of medical centers and patients from 35 other countries," said Professor Aung Tin, Executive Director of SERI, and vice president of SNEC at SNEC. The coordination work is very challenging and the main work is done in Singapore, and these findings are very exciting because it guides new therapies for the treatment of glaucoma. "These results have increased our awareness of glaucoma and have identified important treatments for this common blinding disease," said Dr. Janey L. Wiggs, a professor of ophthalmology at Harvard Medical School, a co-author of the article. Strategy. "

 It will work by using slit lamp microscope when meeting this problem.




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