A5057285103- Retinal Imaging and Analysis
- Retinal Diseases and Treatments
- Retinal and Optic Conditions
- Ocular Diseases and Behçet’s Syndrome
- Retinal Development and Disorders
University College London
2022-2023
Institute of Informatics of the Slovak Academy of Sciences
2023
Institute of Ophthalmology
2022
Introduction Inherited retinal diseases (IRD) are a leading cause of visual impairment and blindness in the working age population. Mutations over 300 genes have been found to be associated with IRDs identifying affected gene patients by molecular genetic testing is first step towards effective care patient management. However, diagnosis currently slow, expensive not widely accessible. The aim current project address evidence gap IRD an AI algorithm, Eye2Gene, accelerate democratise service....
Abstract Rare eye diseases such as inherited retinal (IRDs) are challenging to diagnose genetically. IRDs typically monogenic disorders and represent a leading cause of blindness in children working-age adults worldwide. A growing number now being targeted clinical trials, with approved treatments increasingly available. However, access requires genetic diagnosis be established sufficiently early. Critically, the timely identification remains challenging. We demonstrate that deep-learning...