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NEW GENOME-WIDE STUDY IDENTIFIES 68 NEW LOCI ASSOCIATED WITH IOP
Glaucoma is the leading cause of irreversible blindness globally and raised intraocular pressure (IOP) is the most important risk factor for primary open-angle glaucoma (POAG), the most common form of glaucoma in the United States. Population-based studies have suggested a 10 percent increase in risk for every mm Hg increase in IOP. Lowering IOP remains the only proven therapy to slow the progression of vision loss in POAG.
Now a new genetic study has identified 68 novel loci associated with IOP and the development of POAG. The study is the largest genome-wide association study (GWAS) to date, with 139,555 European participants from three separate studies. A genome-wide association study involves rapidly scanning selected markers across the complete sets of DNA of many people to find genetic variations associated with a particular disease.
Combining the three separate study results into a mega-analysis revealed genome-wide significant associations and identified 112 genomic loci associated with POAG, of which 68 are new for IOP.
“Collectively,” said one of the researchers, Dr. Louis Pasquale of the Icahn School of Medicine at Mt. Sinai, “the newly discovered genes have improved our ability to predict the development of primary open angle glaucoma.”
The genetic loci identified in this study not only increase understanding of the pathways involved in IOP and glaucoma but also open the possibility of using genetic markers to improve disease screening or even prediction of the natural history of disease in people at risk for glaucoma.
EYE INJURIES AND TRAUMATIC GLAUCOMA
There are numerous secondary glaucomas, in addition to glaucoma brought on by uveitis, which Niki de Lara suffers from. Another is traumatic glaucoma. Both blunt force trauma and penetrating ocular trauma may damage structures that are critical for proper regulation of intraocular fluid flow and intraocular pressure. Bleeding and inflammation caused by trauma may also result in elevated intraocular pressure. Glaucoma is most likely to develop within months of a traumatic injury, but may also occur many years later due to damage to the eye's drainage system. Surgery is often needed to stop damage.
The sports and leisure activities you enjoy may put you at higher risk for eye injuries. Those with the highest risk are contact sports, racquet sports, and sports involving a ball or puck. Baseball and boxing are the most common sports that cause injuries leading to glaucoma. Smaller athletic ball hits (squash, handball, lacrosse) for those who don’t wear eye protection can also be dangerous. Other things that can cause injury range from bungee cord whip-backs into the eye to champagne corks that go awry and pellet and BB guns.
Before starting a new sport, find out what kind of eye protection is recommended. Wearing safety glasses whenever you are involved in activities that can lead to eye injuries is a smart and safe way to avoid injury. If you enjoy outdoor sports or activities, also make sure your eyes are protected from ultraviolet (UV) light with a pair of sunglasses or goggles certified to block UVA and UVB light.
DECEPTION OF PERCEPTION
By Niki de Lara
Dimension is low – no 3D glow,
Illusions of vision – perception is different.
That stranger is too close; I need to feel some space,
My brain feels too busy, longing for my own pace.
Seeing the world through strange vision and colour,
For some there is black, for some there is blue.
How special we are, never doubt yourself now,
Always be true to you.
Something may be closer than it looks,
These facts are not written in the books.
Find out for ourselves with frustration and pain,
But be kind to yourself and your dignity will remain.
Shades of light are too dark then too bright,
The mirror is too close and the heat burns my eyes.
But don’t be fooled though; I am still cool,
And I am still smart and wise.
You know my faith is as strong as the vast blue skies.
LIVING WITH GLAUCOMA
MEET NIKI DE LARA
Niki de Lara
Niki de Lara lives in England. She formed her “Glaucomarize” website and blog in July, 2017, following serious uveitis and glaucoma that included the loss of her sight in one eye and almost losing the sight in her other eye. “I believe that whatever curves life throws at us, one must always make the best out of a situation; there is always a positive side! After my experiences with uveitis, glaucoma, operations, sight loss, medicine routines and changing ways of life I can only use all this to make the way forward positive. This is the reason for Glaucomarize.
“I would like it to reach as many people as possible, to help others on a bad day, just the feeling of knowing we aren’t alone can bring a massive change in outlook. I’ve had a lot of friendly support from various glaucoma groups; that alone helped me in knowing I’m not alone. Every person’s experience is different, mine started with uveitis in my right eye. (Uveitis is inflammation of the uvea — the middle layer of the eye that consists of the iris, ciliary body and choroid. There are many potential causes for this condition, many of which are hard to identify.) However, I hope that by sharing my story, it will help to give faith, insight and courage to many. I hope my story and my blog and website help other glaucoma sufferers. May God bless you all and always remember to keep faith over all of the difficult eye situations and frustrating eye days. Never give up!
“I still use steroid drops occasionally and another drop which is a lifesaver – recommended by my surgeon. I’m so very fortunate to be able to see each day. After those few hours that March day in 2015 when my pressure was off the scale and I was possibly hours from total blindness, I have learned to never take anything for granted. To smile even if you don’t feel like smiling. To be thankful for all I have each and every day. To look after myself better and be thankful for who I am. I wake up each morning with gratitude that I can see the beautiful world and those I love.”
You can read Niki’s story and much more at glaucomarize.org. Niki wanted to turn her difficulties into something very positive that would help others suffering from glaucoma. Hence the invention of a new transitive verb – “to glaucomarize”…to raise awareness about the serious eye disease known as glaucoma.
WHAT IS UVEITIS?
At the age of 32, Niki de Lara was diagnosed with uveitis, a chronic inflammation within the eye that can lead to glaucoma. Up to 10 percent of patients with uveitis will develop glaucoma. Glaucoma caused by uveitis is a secondary glaucoma—i.e., a form of glaucoma in which there is an identifiable cause of increased eye pressure, resulting in optic nerve damage and vision loss.
The relationship between uveitis and glaucoma is a complex one. Glaucoma is an optic neuropathy with elevated intraocular pressure (IOP) as one of its primary risk factors. Uveitis can cause increased IOP when inflammatory debris obstructs the trabecular meshwork resulting in decreased fluid outflow from the eye. In the long-term, inflammation can also cause scar tissue that further obstructs fluid outflow. In addition, corticosteroid treatment for uveitis can, by itself, cause elevated IOP as a side effect.
Treatment of uveitic glaucoma involves control of both the inflammation and the IOP. Inflammation can respond to anti-inflammatory drugs or steroids in a variety of forms – topical (eyedrops, ointments), injection or even systemic (oral, intravenous). Glaucoma treatment follows the POAG regimen – pressure-reducing drops and possibly filtering surgery (trabeculectomy) or a glaucoma drainage implant. Niki’s experience as a uveitis patient with glaucoma can be read on her website, Glaucomarize.org.
WE ARE LOOKING FOR STORIES TO SHARE
One of the most popular features of TGF’s Eye to Eye newsletter and electronic newsletter update has been our “Lifestyle Connection/Living with Glaucoma” series, in which glaucoma patients, inspiring and often courageous, have shared their personal stories. We’ve featured a teenager who lives life to the fullest, a triathlete who makes news, an active 90-year-old woman who shared fine advice, among others.
We are always looking for individuals whose lives have been impacted by glaucoma and whose experiences can inform others. If you would like to share your own story, or suggest another, email firstname.lastname@example.org.
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