Background: 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 of individuals affected with IRDs, their relatives, friends and caregivers, and the potential acceptability of an AI technology, such as Eye2Gene. Methods: This cross-sectional survey was distributed electronically using the Qualtrics-encrypted platform between April to August 2024. The mixed-methods survey included Likert-scale and open-ended queries. Analysis was performed using descriptive statistics and content methods. Results: The survey was answered by 247 respondents of which 79.8% were patients and the remainder were relatives, friends and caregivers. There was substantial variability in patient diagnostic journeys in terms of waiting times to see a specialist (IQR 1 to 4 years), commute required (IQR 10 to 74 miles) and number of visits to reach a diagnosis (IQR 2 to 4). A substantial proportion of patients had a change in diagnosis had a change in diagnosis (35.8%). The majority of respondents were overwhelmingly in favour of the integration of AI into the IRD pathway to accelerate genetic diagnosis care (>90%). Conclusion: This survey identifies several key gaps and disparities in the IRD pathway which can be addressed in part by the integration of AI for more equitable care. Survey also revealed a favourable attitude towards incorporating AI into the diagnostic testing of IRDs.

NP and WAW are patent holders of PCT/EP2023/076614 filed by UCL Business which relates to an AI system for retinal classification of inherited retinal diseases (Eye2Gene). There are no other relevant competing interests to declare

This work is primarily funded by a NIHR AI Award (AI_AWARD02488) which supports NP, WAW, MM, KB, SD, SM, TM and MG.

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The details of the IRB/oversight body that provided approval or exemption for the research described are given below:

This research was approved by the IRB and the UK Health Research Authority Research Ethics Committee (REC) reference (22/WA/0049) "Eye2Gene: accelerating the diagnosis of inherited retinal diseases" Integrated Research Application System (IRAS) (project ID: 242050). All research adhered to the tenets of the Declaration of Helsinki. Consent was obtained at the start of the survey. Respondents that did not select the option for consent to participate in the survey were excluded.

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