Inherited retinal disease pathway in the UK: a patient perspective and the potential of AI.

ABSTRACT:

Background

Inherited retinal diseases (IRDs) are the leading cause of blindness in young people in the UK. Despite significant improvements in genomics medicine, the diagnosis of these conditions remains challenging, and around 40% do not receive a definite genetic diagnosis after extensive genetic testing. This survey aims to investigate the experience of individuals affected by IRDs, their relatives, friends and caregivers, focusing on their care and diagnostic journey. Additionally, it explores the potential acceptability of artificial intelligence (AI) technologies, such as Eye2Gene, that predict causative genes from retinal images of patients with IRDs.

Methods

This cross-sectional survey included Likert scale and open-ended questions and was distributed electronically

SUBMITTER: Wong W 

PROVIDER: S-EPMC12573410 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature