Why is understanding vision conditions important?

But what do we mean by understanding, and why is this research necessary?

Understanding a condition is the first step in medical research. Without understanding, we wouldn’t be able to prevent, diagnose or develop treatments for vision conditions.

It can also help people with a particular condition to know how it developed, because it offers them an explanation for what they’re experiencing day to day.

That’s why we’re inviting Dr Gavin Arno to answer your questions on understanding the genetics of inherited eye disease.

With funding from Fight for Sight in 2017, Dr Arno discovered new genetic variations in inherited retinal diseases. Inherited retinal diseases are a diverse group of conditions that run in families. They can present from birth or develop later in life, and typically lead to progressive vision loss. These findings enabled 10% more patients to receive a diagnosis they didn’t have before and could lead to new treatments.

With this funding Dr Arno also tested new technology that could read parts of the genome. This is something that scientists had previously found difficult.

Dr Arno’s work is a great example of how improved understanding can help people understand their own condition. Knowing how a debilitating condition occurs, and how it may be passed down, can sometimes offer relief to patients. Simply knowing why, and feeling as though your health care team understand why, can be a big step.

But further to that, knowing why a condition develops can go a long way in helping to design appropriate care for those affected, or those who may be at risk.

As one of our grantees, Dr Tasanee Braithwaite said: "As an NHS eye doctor…I am struck weekly by unmet need for a stronger evidence-base to inform more personalised, participatory and predictive medical and eye care. For example, why does disease start? Why are some people affected more severely than others?"

Dr Braithwaite has previously received Fight for Sight funding to better understand the impact of sight loss in Trinidad and Tobago, and has recently completed another Fight for Sight and The Royal College of Ophthalmologists co-funded project on the risk of broader autoimmune disease in those with eye inflammation.

A large proportion of the research we fund at Fight for Sight focusses on improving our understanding of different conditions. Without understanding the biological mechanisms involved in a condition, or what causes it to develop, we cannot necessarily make informed predictions about how to reduce the impact of the condition. This could be in the form of further research into prevention, enabling early diagnosis, or developing appropriate treatments.