Research Introduction

Many forms of sight loss are caused by degeneration of the layer of tissue at the back of the eye known as the Retina. This can lead to variable levels of vision loss which is specific to each person, and depending on the condition they have, the variance can even be within the same families with the same gene type. RI believes it is vital to understand the condition that affects you or your family members, so that you can make informed decisions about your eye care and the supports that may be needed now and into the future.

Researchers all over the world are investigating Retinal Dystrophies, also referred to as Retinal Degenerations and are continuously identifying the causative genes and symptoms, with the intention of developing treatments and, ultimately, cures.

Some conditions, such as forms age-related macular degeneration and diabetes related vision loss, can be successfully treated. For some rare, genetic and inherited conditions or Inherited Retinal Diseaes (IRDs) as they are often described, we are still in the early investigative stages, for others we are moving towards human clinical trials, and even towards potential treatments.

Types of Research

Initially members of RI were focused on gene therapies solely, but the development of innovative technologies and a better understanding of biology has meant that there are now many more pillars of research offering hope for treatment. Here are some.

Genes and Gene Therapy

Gene therapies are designed to treat Inherited Retinal Disease by repairing the abnormal gene. This is achieved by replacing the disease-causing faulty gene with a “normal” copy into an affected person’s cells. The most successful method to deliver the gene to the cells is using a harmless virus that has been genetically modified to carry human DNA. The good news is The Eye is an ideal organ for gene therapy as it is well protected from the body’s immune response. Early successes at clinical trial stage are paving the way in the near future for treatments for both inherited and non-inherited forms of blindness.

Cell Therapy and Regenerative Medicine

Stem cell technology holds great potential for improving the sight of people with a visual impairment. In replacing photoreceptors that have been lost due to degeneration it is hoped useful vision could be restored. A number of studies are currently being undertaken in order to develop new therapies to treat, or prevent loss of vision. Central to this research is the development of our understanding of how different types of stem cells behave, and how best to harness their potential in the eye. It is important to realise that stem cells are not a one-stop, generic cure, this is complex research, but they do hold exciting potential for vision repair.

Retina Implant Technology

Retina implant technology is the use of microelectronics and microchip electrodes surgically implanted into the back of the eye (retina) to restore the function of the damaged light-activated cells found there. These photoreceptor cells respond to light and convert it to an electrical signal which is passed to nerve cells in the eye, and then ultimately to the brain where it is perceived as vision. 

Novel Drug Therapy

Sustained scientific research has led to a better understanding of the underlying cause of disease for a large number of retinal dystrophies leading to the exploration of novel drug therapies to “compensate” for the defect causing vision loss. Another approach involves using drugs to target pathways that may slow the death of photoreceptor cells, preventing further vision loss and preserving vision. Many of these drugs are repurposed drugs; this means they may already be approved for use in a completely different disease and are being tested for their effectiveness in the eye. These therapies may have the potential to be administered to many different forms of IRD, and not just gene specific conditions. 

Population Studies

Population studies are also known as epidemiology which is the study of a group of individuals taken from the general population who share a common characteristic, such as a health condition. These studies are incredibly important to understand the course of disease in different people and even in different populations.

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