SciTech Europa Quarterly explores the work being done to stimulate developments within vision research and how technology can support diagnosis.
With a series of developments in vision research over the last year, SciTech Europa Quarterly explores the varying stages in achieving these breakthroughs — from stimulating research, discoveries and development, to how the latest cutting-edge innovation can aide medical professionals in their work environment.
Stimulating new sights to study
The European Association for Vision and Eye Research (EVER) operates as an international non-profit association, aiming to encourage both vision research and dissemination of knowledge in relation to eye and vision, through meetings, publications, and the exchange of information. Covering all aspects of ophthalmology and visual sciences, EVER currently has over 850 members from 48 countries. EVER is represented by 11 scientific regions, including:
- Corneal and retinal research;
- Immunology; and
The objectives of EVER are to:
- Both promote and advance clinical and basic scientific research in ophthalmology, vision sciences, and related specialties;
- Encourage a leading international forum and platform, through the means of the EVER congress, for scientific discussion and debate;
- Disseminate scientific knowledge both in scientific meetings, and publications;
- Contribute towards education of ophthalmology, vision research sciences, and related specialties; and
- Support younger generations of ophthalmologists, vision scientists and allied professionals within Europe.
How can genetics help diagnose visual complications?
Together a research team from the University of Helsinki, Helsinki University Hospital, and Folkhälsan Institute of Genetics, Helsinki, Finland, have identified a genetic mutation which both alters the function of cryopyrin, and leads to life-long periodic inflammation of the cornea. Those who suffer from the mutation also develop corneal opacities which compromise vision.
Decades ago, the Finnish ophthalmologist Dr Olavi Valle reported a family whom shared the same optical problem whereby their eye became irritated for a few days, several times a year, and subsequently experienced blurred vision in the weeks which followed each episode of irritation. Valle coined the term karatitis fugax hereditaria, the Latin translation for transient inherited corneal inflammation.
As reported by the University of Helsinki, Dr Joni A Turunen, the project leader of the research team, said: “Thanks to the discovery by Dr Valle, we diagnose new patients with keratoendotheliitis fugax hereditaria every year in the Helsinki Eye Hospital.”
How was the discovery made?
Turunen recruited 30 affected patients from seven families, amongst others who seemingly had no relatives with a similar condition. After sequencing the protein coding regions of the chromosomes of ten patients, Turunen found that all shared an identical mutation in:
- Nucelotide-Binding Domain;
- Leucine-Rich Repeat Family; and
- Pyrin Domain-Containing 3 (NLRP3) gene that codes cryopyrin.
Keratoendotheliitis fugax hereditaria is the fourth periodic syndrome associated to crypopyrin.
Professor Anna-Elina Lehesjoki, professor at the Folkhälsan Institute of Genetics and senior geneticist within the research team, said: “Now that the gene has been identified, we have reason to believe that the disease actually is more universal. Exome databases show that carriers of this mutation exist in other populations within European ancestry as well, with a frequency comparable to that in Finns.”
“Because the symptoms of keratoendotheliitis fugax hereditaria are short-lived and unspecific, a family history is seldom volunteered by our patients and also unlikely to be queried by an ophthalmologist unaware of its existence, as almost all ophthalmologists outside Finland have been.
“We expect that patients begin to emerge more widely n ow that the diagnosis can be made by genetic testing. We were just the lucky ones to be informed early of the existence of this intriguing corneal disease, thanks to the astute observations by Dr Valle”, Turunen added.
An AI approach
DeepMind, a London-based artificial intelligence (AI) developed, broke down data from thousands of retinal scans to train their AI algorithm to detect signs of eye disease, in efforts to improve the speed and efficiency at which it can currently be performed by human specialists. The algorithm was trained using anonymised 3D retinal scans, of which were provided by London Moorfields Eye Hospital, one of the most credible in the world in the field of ophthalmology.
As the images provide rich data with millions of pixels of information, the algorithm learnt to analyse these scans for the three most serious eye diseases:
- Diabetic retinopathy; and
- Age-related macular degeneration.
The study formed a two-year partnership between DeepMind, the NHS, and Moorfields, from this the findings were submitted to a medical journal by the AI company, following promising results.
Clinical Lead for DeepMind, Dr Dominic King, told the Financial Times: “In specific areas like medical imaging, you can see we’re going to make really tremendous progress in the next couple of years with artificial intelligence. Machine learning could have a very important role picking up things more sensitively and specifically than currently happens.
“[Artificial intelligence] needs to be implemented and evaluated I would say as rigorously as a new pharmaceutical medical device so you have evidence that then allows you to scale up across a health system.”
This article will appear in SciTech Europa Quarterly issue 26, which will be published in March, 2018.