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AI in eye scans helps improve diagnosis of inherited retinal disease - Video

Published On 2023-06-10T09:00:13+05:30  |  Updated On 10 Jun 2023 3:28 PM IST
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Overview

Inherited retinal diseases (IRDs), single-gene disorders affecting the retina, are very difficult to diagnose since they are uncommon and involve changes in one of many candidate genes. Outside specialist centres, there are few experts who have adequate knowledge of these diseases, and this makes it difficult for patients to access proper testing and diagnosis. But now, researchers from the UK and Germany have used artificial intelligence (AI) to develop a system that they believe will enable more widespread provision of testing, together with improved efficiency.

Eye2Gene, an AI system is capable of identifying the genetic cause of IRDs from retinal scans.

The researchers were able to utilise Moorfields Hospital’s vast database of information on IRDs, covering over 30 years of research.

Identification of the gene involved in a retinal disease is often guided by using the patient’s phenotype defined using the Human Phenotype Ontology (HPO). The HPO involves the use of standardised and structured descriptions of medical terms of a patient’s phenotype, which are observable characteristics of an individual resulting from the expression of genes, to allow scientists and doctors to communicate more effectively. “However, HPO terms are often imperfect descriptions of retinal imaging phenotypes, and the promise of Eye2Gene is that is can provide a much richer source of information than HPO terms alone by working directly from the retinal imaging,” says Dr Pontikos.

The team benchmarked Eye2Gene on 130 IRD cases with a known gene diagnosis for which whole exome/genome, retinal scans, and detailed HPO descriptions were available, and compared their HPO gene scores with the Eye2Gene gene scores. They found Eye2Gene provided a rank for the correct gene higher or equal to the HPO-only score in over 70% of cases.

Reference:

Dr Nikolas Pontikos et al,EUROPEAN SOCIETY OF HUMAN GENETICS

Speakers

Isra Zaman

B.Sc Life Sciences, M.Sc Biotechnology, B.Ed

Isra Zaman is a Life Science graduate from Daulat Ram College, Delhi University, and a postgraduate in Biotechnology from Amity University. She has a flair for writing, and her roles at Medicaldialogues include that of a Sr. content writer and a medical correspondent. Her news pieces cover recent discoveries and updates from the health and medicine sector. She can be reached at editorial@medicaldialogues.in.

Dr. Kamal Kant Kohli

Dr Kamal Kant Kohli-MBBS, DTCD- a chest specialist with more than 30 years of practice and a flair for writing clinical articles, Dr Kamal Kant Kohli joined Medical Dialogues as a Chief Editor of Medical News. Besides writing articles, as an editor, he proofreads and verifies all the medical content published on Medical Dialogues including those coming from journals, studies,medical conferences,guidelines etc. Email: drkohli@medicaldialogues.in. Contact no. 011-43720751
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