Article

The Inherited Retinal Disease Pathway in the United Kingdom: a Patient Perspective and the Potential of AI

2025-01-14

Abstract excerpt

<h4>Background</h4> Inherited Retinal Diseases (IRDs) are the leading cause of blindness in young people in the UK. Despite significant improvements in genomics medicine, diagnosis of these conditions remains challenging, with many patients enduring lengthy diagnostic odysseys and even after genetic testing around 40% of them do not receive a definite genetic diagnosis. This survey aims to explore the experience o...

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Literature Corpus work: 31fc51fe-a5a4-5146-bd3c-c724a2f3650b
DOI: 10.1101/2025.01.14.25320497

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