Somethings we inherit physical traits from our parents. Some of them are good, and some of them, well not so much. For the most part, we learn to live with our not so good inherited traits. But what if the trait in question was diminishing your quality of life?
This is the case, unfortunately, for many suffering from inherited blindness from their parents. Until recently, the only solution was to make the most of your fleeting vision; but a new treatment is on the horizon.
A study published in the New England Journal of Medicine shows that there is hope for treating inherited blindness through new gene therapy methods.
As you know, not all vision conditions are hereditary. However, some forms of blindness are. This can mean bad news for parents with hereditary blindness. Not only does it mean losing your vision, but it also means passing down your genes to your children. One thing no parent wants is for their child’s eyes to be less than perfect.
In a study published in the New England Journal of Medicine, participants all suffered from the same form of blindness: choroideremia (CHD). This hereditary blindness is rare, but when it does surface it is almost exclusively found in men (sorry, men).
CHD is a progressive blindness. It often begins in childhood, with the first symptom being night blindness. Rings of blurred vision mark the beginning of the disease. Slowly, the rings will begin to affect a person’s central vision, until finally the rings expand to the extreme periphery and cause loss of vision.
The quickness of the progression of this disease depends on the individual; as does the amount of vision loss. Some will experience complete vision loss, while other will have only partial vision loss. Degrees in vision loss can even vary within families. However most who suffer from CHD will experience some degree of blindness by middle age.
The disease attacks the retina and is caused by a faulty gene called CHM. When this gene is not in proper form, it inevitably means eventual blindness.
It’s a rare disease, but nonetheless a tragic one. Many vision conditions are within one’s control, but hereditary blindness is not. When you can’t take precautions to prevent a disease, hope wavers.
The only way to test for CHD is to have a blood test. If you’re curious or worries about your genes, ask your doctor if a blood test is right for you.
There is currently no cure or treatment to improve vision for those afflicted with CHD. However, science is getting pretty darn close. A new form of gene therapy is in the testing stages and could be a promising cure for hereditary blindness like CHD and others.
Gene therapy isn’t what you might think. You don’t need go to several sessions to “work” your genes. In fact, it’s all done with one simple injection. But you will need to follow up with doctors to make sure there are no side effects and to track your vision improvements.
This one time injection targets the defective CHM gene. Don’t freak out, but the injection is actually a virus. This virus is friendly and won’t harm anyone but the faulty gene.
Equipped with a properly working strand of the CHM gene, the virus will travel through the body and replace the existing CHM gene. It goes directly to the retina to help the retina’s photoreceptors, which are responsible for detecting light and colors.
Out with the old and in with the new, should be the gene therapy’s official slogan because this new breakthrough could change the course of hereditary blindness. Though it’s only been tested on those with CHD, with more research it could potentially open the door to cure other hereditary eye diseases.
Because CHD is a slow progressing disease, it is actually easier to treat. With this new injection, progression can be slowed and improved before any permanent damage is done to the eyes.
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The Study’s Success
We’re very eager to report that the result of this study look more than promising; they were a down right success! Six patients were tested and observed over a four year period. The results are astonishing and will definitely open doors to new cures, or maybe even a single cure for all hereditary blindness.
Let’s start with the bad news so we can end on a happy note. The bad news is that one patient saw a decline in their eyesight over the course of the four year study. However (and this is a big however), the patient was given a low dose of the injection which could explain why he was found to have lost vision in both eyes.
Two patients saw incredible improvement in their eyes over the fours year, but unfortunately saw a decline in their good vision once the injections stopped. The three last patients saw improved eyesight that sustained the four years and then some.
From this last result it becomes clear that further research is needed to accurately determine why some patients lost their eyesight once treatments stopped and why some didn’t. Because the disease is so individualistic, scientists must also find a way to allot the proper dosage to each person.
For some time before trials began, there had been doubt about the long term sustainability and effects of the injection. With these results it becomes clear that a long lasting injection isn’t too far away. A few tweaks and some more research and we could be on the horizon of making gene therapy history.
The silver lining for now is that no matter how long the injection lasts at this point in its development; even the slightest improvement in a patient’s vision can mean regaining their independence. Nothing is more sacred than a person’s independence and this new gene therapy strives to give it back to those who had no choice in losing it.
As our knowledge of genetics expands and grows every day, we get closer to a cure to genetic diseases including eyesight related ones.
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