Unlocking the Secrets of Retinal Dystrophy
Scientists did a big study and looked into pictures and genetic information from the UK Biobank to learn more about rare eye problems. Retinal dystrophies are one of these, which are health problems you can get because of your family genes that cause damage to your eyes and make it hard for you to see. These kinds of health issues can lead to blindness for adults who work for a living.
The retina is found at the back of the eye, and it’s made up of many layers. It works by taking in light to change it into signals that our brains can understand. Every layer of the retina has different kinds of cells, each having its own job in converting the light into a signal.
Researchers studied photoreceptor cells (PRCs) which are located in your eyes and can be seen through a special type of imaging called optical coherence tomography (OCT). This kind of imaging is offered by many opticians nowadays. With this study, the researchers used OCT image data and information stored in UK Biobank to make the biggest genome-wide association study ever done on PRCs.
Unlocking the Mystery of Rare Eye Diseases
Some rare diseases of the eyes are caused by changes in certain genes expressed by special cells in the retina. These mutations make the eye not work properly, leading to blurry vision or being totally blind. Even though these illnesses don’t happen very often, a lot of working-age adults still become blind because of them.
Hannah Currant, who used to be a Ph.D. student at the EMBL-EBI and is now working as a Postdoctoral Fellow at CPR University of Copenhagen, said they had lots of data which they hadn’t seen before in similar studies. This data helped them identify different links between genes and rare eye diseases. It also showed them various paths for researching further into these rare eye conditions, giving them new ideas to explore.
Unlocking Eye Understanding
Doctors use a type of imaging called OCT to see inside our eyes. These pictures show different levels and structures inside the retina. The researchers used the OCT images, in addition to genetic and medical data, from more than 30,000 people stored in the UK Biobank database in this study.
The UK Biobank is super important and really useful, according to Ewan Birney, who works at the European Molecular Biology Laboratory (EMBL). He says that inside this Biobank, there are lots and lots of data which can help us better understand how our bodies and illnesses work.
Investigating How Common Genetic Variations Affect the Photoreceptor Layer
Researchers did some special tests on people’s genes to see if there are any differences in a special type of layer near the outer parts of the eye. These tests found changes in someone’s genes which can affect how thick that layer is and even cause certain types of eye diseases. This information is stored and can be looked at by anyone who wants to view it.
When scientists studied genetic information, they noticed some variants that were linked to eye diseases. What was surprising is that some of these variants are actually very common but they can be found close to the genes which cause rare eye diseases when they get disrupted. The researchers looked into how different combinations of common variants near genes that cause rare eye diseases can change the structure of a person’s retina. This will help them better understand how these common variant might give rise to a specific rare disease in someone’s eyes.
Omar Mahroo, a professor and doctor at two UK medical centres, said that the future of medicine is changing because of the use of computers to study data from lots of people. He believes that if scientists could find links between disease symptoms and genetic traits, it would lead to better ways for doctors to diagnose and treat diseases.
A research study was done by a group of scientists, who wanted to investigate how common genetic variations affect the photoreceptor layer on an extremely small level. The study was sponsored by the Wellcome Trust and the results were published in the journal PLOS Genetics on 27 February 2023.
