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Artificial Intelligence (AI) has sparked significant interest in recent years for its potential impact in multiple aspects of life. We’re funding a research study that will use deep learning to evaluate causes of inherited retinal diseases.

The challenge

Artificial Intelligence (AI) has sparked significant interest in recent years for its potential impact in multiple aspects of life. AI is particularly suited for automatically recognising patterns in complicated scenarios and drawing conclusions based on these patterns.

Deep learning is a branch of AI. It has shown promise in many aspects of Ophthalmology, not only for its diagnostic potential but also its prognostic and screening capabilities. 

Reliable screening allows pathologies to be diagnosed at an early stage (when treatment is more likely to be successful). Inherited retinal diseases are a common cause of blindness, so a tool that allows early diagnosis would be very beneficial - not only for prognostic and counselling purposes, but also in the context of new therapeutic strategies like gene therapy. 

Finding a solution

This research study will apply deep learning to electroretinography (ERG), a test that measures the electrical activity of the eye and is used to evaluate many causes of inherited retinal diseases. 

The project will focus on patients with Stargardt disease. Stargardt disease is the most common inherited disease of the macula, a small area in the middle of the retina responsible for fine vision (e.g. reading, driving). 

Initially the research team will develop bespoke software so that the information gathered from the ERGs can be used for deep learning. The resulting data will then be analysed by a computer and compared with those of a clinician who has analysed the same ERG data to see if they are the same.

What is Stargardt disease?

Learn more

Stargardt disease develops when an area of light sensitive cells at the back of your eye (the macular) begins to waste away. It is a genetic condition and can cause severe sight loss.

The macular is part of your retina, and it’s responsible for detailed vision - you would need it to watch TV or read, for example.

In Stargardt disease, the cells in the macular begin to die. This leads to a loss of detailed vision and a reduced ability to see colour, as well as blurriness and blind spots.

The macular is only responsible for central vision, so Stargardt disease doesn’t usually cause loss of peripheral vision. However, many people with Stargard disease will end up with severe vision loss.

1 in 9,000

Stargardt disease affects one in every 8,000-10,000 people

Since Stargardt is an inherited genetic condition, symptoms usually begin to show before the age of 20.

Currently there is no treatment or cure for Stargardt disease. People living with Stargardt disease should wear UV-blocking sunglasses to protect their eyes from further damage.

Trials are currently in progress investigating whether stem cells could be used to repair the macular and restore sight to patients with Stargardt disease.

The potential

If it is proved that AI can be used to characterise ERGs from patients affected by Stargardt Disease, it is likely other inherited retinal diseases will be amenable to the same process. 

This would not only allow the use of ERG beyond highly specialised centres but also has the potential to reveal subtle information not readily detectable by human analysis. 

This may improve diagnostic precision and knowledge of pathophysiology. It may also help grow our understanding of specific genetic changes and eventually provide data relevant to new treatment strategies.

Project Details

Funding scheme

Springboard Award

Grant holder

Dr Anthony Robson, Dr Omar Mahroo

Area(s) of work

Retinal disease | Genetics | Inherited eye disorders

Award level


Start date

October 2019

Grant reference

GR001003 and GR001062