An article by the Evening Standard announces new research towards a cure for cases of genetic blindness. The doctors pursuing this research are able to develop specific parts of the eye using a patient’s skin cells. The procedure may be able to help those with conditions such as choroideremia using only a lentil-sized skin sample. Keep reading to learn more, or follow the original story here for more information.
What is Choroideremia?
Choroideremia is a genetic condition causing loss of vision. The loss of vision is progressive and often leads to blindness. Choroideremia primarily affects males. Women living with choroideremia may experience similar, though milder, symptoms. In females, cases of choroideremia blindness is more rare.
Choroideremia typically begins in childhood. It is characterized by a broad loss of retinal layers. Symptoms may include night blindness, tunnel vision, impaired visual acuity, and blindness. Click here to learn more about choroideremia
Growing an Eye
Using a small tissue sample (about 4mm), specialists at the UCL Institute of Ophthalmology are able to produce an eye cup. This peculiar-sounding result is very similar to a human eye during early development. More specifically, it’s similar to the donor’s own eye when they were still in the womb.
It takes several months to develop an eye cup. After the skin sample is donated, doctors place the tissue in a nutrient rich flask. Electrical pulses introduce a series of proteins into the tissue, allowing it to become a type of stem cell. These stem cells can then be manipulated into eye cups.
As a result of matching genetic information, the eye cup can be very useful for tests. Researchers can use the eye cup to determine the effectiveness of a treatment not only for a condition but for an individual. It could be the key to slowing degeneration or stopping it all together. This kind of testing can help potential treatment move to clinical trials much more quickly.
Meet Matt Murrell
Mat Murrell is a schoolteacher. He’s 29 years old, and teaches primary school students. Matt received a diagnosis of choroideremia at age five. Matt’s first symptom was night blindness. When Matt was about 20, he began to lose his peripheral vision.
Thank to the development of the eye cup technique, doctors have been able to correctly identify drugs which will strengthen the cells of his retina. All that remains is for doctors to secure funding and a clinical trial can begin. Matt is hopeful that by the time he turns 35, doctors will have found a way to stop his condition worsening. Perhaps with advances in technology, they may even be able to completely save his sight.
