Inherited Retinal Disease – The reality of the patient experience and hope for the future

Inherited Retinal Diseases (IRDs) are relatively unknown by those not directly affected by them. IRD patients often come up against a lack of awareness. It is not uncommon for them to be (wrongly) thought of as inevitable age-related sight problems – and dismissed accordingly. The reality is that IRDs sadly have no such limitation. And the fact that these diseases remain relatively rare is of little consolation to those whose lives are blighted by the resulting loss of sight – and freedom.

So, what do we know?

IRD refers to a multitude of diseases with a strong genetic component that lead to vision loss and, more often than not, eventual blindness. A mutated inherited gene (or genes – more than 260 of them can be to blame!) causes a degenerative condition. Some variations cause babies to be born with their eyesight already severely compromised and facing rapid deterioration to complete blindness whilst still in childhood. For patients of Retinitis Pigmentosa, a sub-group of IRDs, the path of degeneration is not universal, but sufferers often go from being able to read, drive, and watch television, to losing enough of their central vision to make these joys impossible. Imagine a child no longer able to recognise and engage with their mother’s face, or the taxi driver now unable to work. The impact on quality of life is significant. 

And what of the treatment available?

Tragically, for most patients with IRD, there has historically been very little treatment available at all to alleviate their symptoms or to slow the progression of the disease. And while support has tended to look to practical considerations, and assistive technology in this space has evolved, these patients have often felt that the impact on their psychological health has not been prioritised. But in recent years there has been real progress in understanding and treatment of the disease, with new clinical trials and the development of more therapies – including the emergence of a revolutionary therapy targeting those problematic genes and promising what had always seemed to be an impossibility. A cure. 

Patients and their families watch, with hope, the advances which might soon offer more and more of them a new view of the world. One which they can experience in all its full technicolour glory. 

What can we do?

Here at PIPHealth, we intend to take our patient-first approach to highlight the realities of the patient experience – and for our research to drive improvements and change in how patients are treated. If you would like to know more or know someone who has IRDs and would like to contribute to our initiative by sharing their stories, please do get in touch at [email protected]. Or leave your name and email address here: