Rare Disease Day 2022

To mark Rare Disease Day on 28 February 2022, the NIHR Moorfields Biomedical Research Centre is highlighting two NIHR-supported projects aimed at improving the lives of patients with rare eye diseases: Eye2Gene and Gene Vision.

Rare Disease Day 28 February 2022 banner


What is Eye2Gene?

Eye2Gene is a new research project aimed at helping accelerate the diagnosis of patients with Inherited Retinal Diseases (IRDs). It began in January 2022 and has funding until December 2024 from the NIHR, and is supported by the NIHR Moorfields Biomedical Research Centre. The project is led by Dr Nikolas Pontikos, Senior Research Fellow and Group Leader at the UCL Institute of Ophthalmology.

Eye2Gene project logo

What are inherited retinal diseases (IRDs)?

IRDs are genetic diseases affecting the retina, which is the part of the back of the eye that senses light and allows us to see. IRDs are often degenerative and can lead to severe vision loss and blindness. Although rare, IRDs nevertheless affect more than 1 in 3000 people in the U.K., and are the most common causes of visual impairment in children and the working-age population. Examples of IRDs include retinitis pigmentosa, choroideremia, Stargardt disease, cone-rod dystrophy and Leber congenital amaurosis. They can be caused by genetic variants (which are like ‘spelling mistakes’ in the genetic code) affecting over 300 genes.

Can IRDs be treated?

Gene-targeted treatment for IRDs is an area of active research, with many emerging treatments. This includes the recently approved Luxturna treatment for RPE65 retinopathy, and 30 more treatments undergoing clinical trials. However, before patients can be offered gene-targeted treatment, they need to have a genetics diagnosis to identify which of their genes is affected. This genetic diagnosis process is highly specialised: it relies on the availability of retinal imaging, genetic testing and the expertise necessary to interpret the results. Even for patients that have access to this service, genetic diagnosis can be a slow and expensive process (on average taking five years and costing £10,000 per patient). The current diagnosis rate is 60%, meaning that over 40% of people with IRDs remain undiagnosed. This represents over 10,000 people in the UK alone. Patients without a genetic diagnosis may miss out on existing and future treatment opportunities.

How will Eye2Gene help?

The Eye2Gene team are developing a ‘decision support algorithm’ capable of diagnosing IRDs from a simple retinal image (fundus photographs or OCT scans). The aim is for this system to be used in non-specialist hospital settings to drastically speed up the genetic diagnosis of IRDs. It does this by automatically determining which gene is likely to be the cause of an IRD, allowing patients to be prioritised for genetic testing, and also by helping clinicians to interpret the results of a genetic test.

How does Eye2Gene work?

The team have already developed an algorithm capable of predicting which gene is causing an IRD using a standard retinal scan, currently to an accuracy of up to 80%. The system uses deep learning – a form of artificial intelligence – trained with a set of labelled retinal scans from patients with established genetic diagnoses. The algorithm is a sophisticated computer programme that has analysed thousands of images, and learnt to recognise patterns that link an individual image to specific gene mutations.

What is the next stage of the Eye2Gene project?

Before the Eye2Gene algorithm can be used in a clinical setting, it needs to be refined and extensively validated to ensure it works reliably and across different populations. This will be done using separate datasets to those used to train the algorithm. These new datasets will come from Oxford, Liverpool and Tokyo.

Another objective is to train the algorithm to identify specific abnormalities in eye scans. The project will also evaluate the financial sustainability for Eye2Gene: how cost-effective it will be for the NHS, and whether it can be licensed commercially, for example to speed up the trials of new treatments by identifying suitable participants more quickly.

How will patients and the NHS benefit from the research?

The team expect improved patient outcomes through accelerated diagnosis, personalised treatment plans, inclusion in clinical trials, and better understanding of IRDs and heritability, which may help family planning, for example. For the NHS, Eye2Gene could reduce costs by speeding up diagnosis and allowing eye services to target genetic testing more efficiently.

Patient summary

Gene Vision

What is Gene Vision and who set it up?

Gene Vision is a website (gene.vision) for people diagnosed with rare genetic eye diseases, as well as their families and carers. It aims to give straightforward information about different eye conditions in a simple, easy-to-navigate format. It also includes a 'chatbot' designed to answer a wide range of questions from patients, carers and the public.

The website was set up in early 2021 by Consultant Ophthalmologist Professor Mariya Moosajee, with support from Dr Alex Yeong and Dr Peter Thomas, Director of Digital Innovation at Moorfields Eye Hospital.

Why was Gene Vision set up and what does it contain?

Although rare, genetic eye disorders affect 1 in 25 children in the UK, while inherited retinal diseases are the commonest cause of blindness among working-age adults. The Gene Vision website was set up in response to the lack professional knowledge and the difficulty for patients in finding out about rare diseases and treatment options.

As well as in-depth information about specific conditions, the site gives information on the latest research and clinical trials. In addition, it is designed to help clinicians and other healthcare professionals working with patients, including GPs, understand rare eye diseases and provide the best care plans.

What else does Gene Vision provide?

The site complements other sources of information, such as the Retina UK website, and helps patients and their families by making it easy to search by a particular condition or gene, and by giving information about charitable support available. It also gives a grounding in basic eye anatomy, and offers support on education, employment and driving.

The website, which is available for free globally and is mobile-friendly, has been user-tested by individuals with a variety of sight impairments and access needs, and is regularly updated and improved.

Who funds and supports Gene Vision?

Gene Vision is funded jointly by the NIHR Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology and Retina UK, a charity which works for people with inherited sight loss. Many other medical charities have also helped with content for the site, including Microphthalmia, Anophthalmia, Coloboma Support (MACS), Aniridia Network, International WAGR Syndrome Association, and Nystagmus Network.