Evidence map›Paper›PMID 40345840›Full record

ArticleThe British journal of ophthalmology2025

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

Wendy Wong, Dayyanah Sumodhee, Tiyi Morris, Bhavna Tailor, Catherine Hollyhead, William A Woof, Stephen Archer, Carl Veal, Loy Lobo, Saoud Al-Khuzaei and 11 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in The British journal of ophthalmology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

6 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Trial
  3. Article
  4. Article
  5. Review
  6. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

21 authors.

Wendy Wong *University College London Institute of Ophthalmology, London, UK.ORCID http://orcid.org/0000-0002-4514-250X
Dayyanah Sumodhee *University College London Institute of Ophthalmology, London, UK.ORCID http://orcid.org/0000-0001-7274-6088
Tiyi MorrisHealth Economics, UCL, London, England, UK.
Bhavna TailorEye2Gene Patient Advisory Group, London, UK.
Catherine HollyheadEye2Gene Patient Advisory Group, London, UK.
William A WoofUniversity College London Institute of Ophthalmology, London, UK.ORCID http://orcid.org/0000-0001-7555-329X
Stephen ArcherEye2Gene Patient Advisory Group, London, UK.
Carl VealEye2Gene Patient Advisory Group, London, UK.
Loy LoboEye2Gene Patient Advisory Group, London, UK.
Saoud Al-KhuzaeiUniversity of Oxford, Oxford, UK.
Malena Daich VarelaUniversity College London Institute of Ophthalmology, London, UK.
Thales A C de GuimaraesUniversity College London Institute of Ophthalmology, London, UK.ORCID http://orcid.org/0000-0002-7936-6851
Manuel GomesHealth Economics, UCL, London, England, UK.
Mital ShahUniversity College London Institute of Ophthalmology, London, UK.
Mariya MoosajeeUniversity College London Institute of Ophthalmology, London, UK.ORCID http://orcid.org/0000-0003-1688-5360
Susan M DownesUniversity of Oxford, Oxford, UK.
Savita MadhusudhanLiverpool University Hospitals NHS Foundation Trust, Liverpool, UK.
Omar A MahrooUniversity College London Institute of Ophthalmology, London, UK.ORCID http://orcid.org/0000-0003-1254-0832
Andrew R WebsterUniversity College London Institute of Ophthalmology, London, UK.
Michel Michaelides *University College London Institute of Ophthalmology, London, UK.
Nikolas Pontikos *University College London Institute of Ophthalmology, London, UK n.pontikos@ucl.ac.uk.ORCID http://orcid.org/0000-0003-1782-4711

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundInherited 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.

methodsThis cross-sectional survey included Likert scale and open-ended questions and was distributed electronically using the Qualtrics platform between April and August 2024. The survey included questions on respondent demographics; their journey to receive specialist care and genetic testing; their information needs and their attitude towards AI-augmented diagnosis. Descriptive statistics and content analysis were used to interpret the survey responses.

resultsThe survey had 247 responses, of which 242 were analysed after removing four duplicates and one without consent; 80.2% were patients and the remainder were relatives, friends or caregivers. There was substantial variability in patient diagnostic journeys in terms of waiting times to see a specialist (IQR, 1-4 years), commute required (IQR, 10-74 miles) and number of visits to reach a diagnosis (IQR, 2-4). A substantial proportion of patients (35.8%) had a change in diagnosis. The majority of respondents (>90%) were overwhelmingly in favour of the integration of AI into the IRD pathway to accelerate genetic diagnosis and improve care.

conclusionThis survey identifies several key gaps and disparities in the IRD care pathway which may potentially be bridged with AI. The survey also reveals a favourable attitude towards incorporating AI into diagnostic testing of IRDs.

Indexed as

Artificial IntelligenceRetinal DiseasesAdolescentAdultCross-Sectional StudiesFemaleGenetic TestingHumansMaleMiddle AgedSurveys and QuestionnairesUnited KingdomYoung AdultDiagnostic tests/InvestigationGeneticsSurveys and Questionnaires

Identifiers

PMID40345840
PMCPMC12573410

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.