Monday, 18 January 2016

Research in Macular degeneration genetics

Out of all the debilitating diseases that can cause vision loss, Macular Degeneration is the worst one. It affects a lot of people all over the world. In the U.S it affects more people than Glaucoma and Cataract combined. However, this is not even the most alarming part. The real issue is that we still don’t fully understand the disease or any of its causes. This makes diagnosis a very hard thing until it is too late.
Macular Degeneration is of two main types – Wet macular degeneration and dry macular degeneration. Most cases in the world are reported to be that of dry macular degeneration and all cases of dry macular degeneration start out as wet macular degeneration only.  Macular Degeneration mostly affects people over the age of 50 and it is usually diagnosed in its later stages.
There are three main manifestation stages for macular degeneration. They are Early AMD ( Age related macular degeneration), Intermediate AMD  and Late AMD. In the early stage it is very difficult to diagnose macular degeneration as there are no visible symptoms except for a yellow deposit bellow the retina. That is why it is imperative that we have regular eye check ups. In the intermediate stage, there are no noticeable sysmptoms. The only way to detect macular degeneration at this stage is through an eye check up. In the third and final stage, vision loss is a reality and your vision will be impaired either by blurriness or by a big black spot right at the center of your field of vision.
The causes for this disease are relatively unknown but it is believed that the factors contributing to the spread of the disease are largely genetic. Therefore much research is being done in macular degeneration genetics. Scientists are busy experimenting and noting the different ways in which patients react to stimulus. The patients are obviously classified based on their genes.
Since 2005 several genetic variants have been consistently associated with macular degeneration and the list keeps on growing. The first gene that was identified is known as Y402H. It is sort of like the common theme among all the other genes identified to be associated with Age related Macular Degeneration. We still cannot confirm whether the disease is caused by faulty genetics. That is the reason why some scientists have gone about exploring the possibility of whetehr the disease is caused by a combination of environmental risk factors and gene variants.

The cure to age related macular degeneration genetics will only be found once we figure out what causes it. Eventually we will figure it out. Until then we do have the option of temporary medical assistance which will provide patients with some form of relief.