ArticleNature machine intelligence2025
Next-generation phenotyping of inherited retinal diseases from multimodal imaging with Eye2Gene.
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Article in Nature machine intelligence, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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20citing papers in PubMed, 1 pooled it
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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.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Pooled it
- AI-based clinician decision support system for diagnosis of inherited retinal diseases: a multicenter, randomized trial.Nature medicine · 2026Trial
- Whole-Exome Sequencing in a Consanguinity-Enriched South Indian Retinitis Pigmentosa Cohort: Diagnostic Yield and Molecular Spectrum.Ophthalmology science · 2026Article
- Deep Learning for Diagnosis of Choroideremia andOphthalmology science · 2026Article
- A text mining and ontology-based approach using phenotypes to obtain relevant literature for rare diseases.iScience · 2026Article
- Article
- Genetic Testing in Inherited Retinal Disease: Current Strategies and Future Directions.Journal of personalized medicine · 2026Review
- Interactive multimodal disease risk evaluation using a self-service non-invasive device.Communications medicine · 2026Article
- Deep learning detection of retinitis pigmentosa inheritance forms through synthetic data expansion of a rare disease dataset.Scientific reports · 2026Article
- Visual Field Estimation in X-Linked Retinitis Pigmentosa Associated with Retinitis Pigmentosa GTPase Regulator (Ophthalmology science · 2026Article
- Automated Report Generation in Ophthalmology: Integrating Artificial Intelligence, Multimodal Imaging, and Clinical Data.Ophthalmology and therapy · 2026Review
- Leveraging large scale deep learning models for diagnosis and visual outcome prediction in retinitis pigmentosa.NPJ digital medicine · 2026Article
- Artificial intelligence in ophthalmology clinical trials: a narrative review.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2026Review
- Article
- The expanding role of artificial intelligence in personalised medicine: from innovation to individualized care.Frontiers in medicine · 2026Review
- Using deep learning to identify inherited retinal diseases based on wide-field retinal imaging data.PloS one · 2026Article
- The Role of Artificial Intelligence in Imaging-Based Diagnosis of Retinal Dystrophy and Evaluation of Gene Therapy Efficacy.Journal of personalized medicine · 2025Review
- Enhanced CoAtNet based hybrid deep learning architecture for automated tuberculosis detection in human chest X-rays.BMC medical imaging · 2025Article
- Stargardt's Connected Research Network Inaugural Meeting: Landscape Review and Horizon Scanning of Stargardt Disease.Translational vision science & technology · 2025Review
- Characterizing the non-pigmented retinitis pigmentosa in a Chinese cohort: Insights into phenotype, genotype, and disease progression.Advances in ophthalmology practice and researchArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
47 authors.
Nikolas PontikosUniversity College London Institute of Ophthalmology, University College London, London, UK.ORCID 0000-0003-1782-4711
William A WoofUniversity College London Institute of Ophthalmology, University College London, London, UK.ORCID 0000-0001-7555-329X
Siying LinUniversity College London Institute of Ophthalmology, University College London, London, UK.ORCID 0000-0003-1122-8396
Biraja GhoshalUniversity College London Institute of Ophthalmology, University College London, London, UK.ORCID 0000-0001-5456-2197
Bernardo S MendesUniversity College London Institute of Ophthalmology, University College London, London, UK.ORCID 0009-0002-0416-6852
Advaith VeturiUniversity College London Institute of Ophthalmology, University College London, London, UK.ORCID 0000-0001-6158-8408
Quang NguyenUniversity College London Institute of Ophthalmology, University College London, London, UK.ORCID 0000-0003-2665-3125
Behnam JavanmardiInstitute for Genomic Statistic and Bioinformatics, University Hospital Bonn, Rheinische-Friedrich-Wilhelms University, Bonn, Germany.ORCID 0000-0002-9317-6114
Michalis GeorgiouUniversity College London Institute of Ophthalmology, University College London, London, UK.
Alexander HustinxInstitute for Genomic Statistic and Bioinformatics, University Hospital Bonn, Rheinische-Friedrich-Wilhelms University, Bonn, Germany.ORCID 0000-0003-4592-3979
Miguel A Ibarra-ArellanoInstitute for Genomic Statistic and Bioinformatics, University Hospital Bonn, Rheinische-Friedrich-Wilhelms University, Bonn, Germany.ORCID 0000-0001-8411-4854
Ismail MoghulUniversity College London Institute of Ophthalmology, University College London, London, UK.ORCID 0000-0003-3653-2327
Yichen LiuUniversity College London Institute of Ophthalmology, University College London, London, UK.
Kristina PfauDepartment of Ophthalmology, University Hospital Bonn, Rheinische-Friedrich-Wilhelms Universität Bonn, Bonn, Germany.
Maximilian PfauDepartment of Ophthalmology, University Hospital Bonn, Rheinische-Friedrich-Wilhelms Universität Bonn, Bonn, Germany.
Mital ShahUniversity College London Institute of Ophthalmology, University College London, London, UK.ORCID 0000-0001-7496-6121
Jing YuNuffield Department of Clinical Neurosciences, John Radcliffe Hospital, Oxford, UK.
Saoud Al-KhuzaeiOxford Eye Hospital, John Radcliffe Hospital, Oxford, UK.ORCID 0000-0002-2779-3202
Siegfried K WagnerUniversity College London Institute of Ophthalmology, University College London, London, UK.ORCID 0000-0003-4915-4353
Malena Daich VarelaUniversity College London Institute of Ophthalmology, University College London, London, UK.ORCID 0000-0003-4960-4510
Thales Antonio Cabral de GuimarãesUniversity College London Institute of Ophthalmology, University College London, London, UK.ORCID 0000-0002-7936-6851
Sagnik SenUniversity College London Institute of Ophthalmology, University College London, London, UK.ORCID 0000-0001-5835-5371
Gunjan NaikUniversity College London Institute of Ophthalmology, University College London, London, UK.ORCID 0000-0003-1296-1362
Dayyanah SumodheeUniversity College London Institute of Ophthalmology, University College London, London, UK.ORCID 0000-0001-7274-6088
Dun Jack FuUniversity College London Institute of Ophthalmology, University College London, London, UK.ORCID 0000-0003-2852-6912
Nathaniel KabiriUniversity College London Institute of Ophthalmology, University College London, London, UK.ORCID 0000-0003-3684-0020
Jennifer FurmanUCL Translational Research Office, UCL Maple House, London, UK.ORCID 0000-0002-0622-6989
Bart LiefersMoorfields Eye Hospital, London, UK.ORCID 0000-0002-2763-6426
Aaron Y LeeDepartment of Ophthalmology, University of Washington School of Medicine, Seattle, WA USA.
Samantha R De SilvaOxford Eye Hospital, John Radcliffe Hospital, Oxford, UK.ORCID 0000-0002-4455-2814
Caio MarquesDepartment of Ophthalmology and Visual Sciences, Escola Paulista de Medicina, Federal University of Sao Paulo, São Paulo, Brazil.ORCID 0000-0002-3992-6965
Fabiana MottaDepartment of Ophthalmology and Visual Sciences, Escola Paulista de Medicina, Federal University of Sao Paulo, São Paulo, Brazil.
Yu Fujinami-YokokawaLaboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.ORCID 0000-0001-7555-5797
Alison J HardcastleUniversity College London Institute of Ophthalmology, University College London, London, UK.ORCID 0000-0002-0038-6770
Gavin ArnoUniversity College London Institute of Ophthalmology, University College London, London, UK.
Birgit LorenzDepartment of Ophthalmology, University Hospital Bonn, Rheinische-Friedrich-Wilhelms Universität Bonn, Bonn, Germany.ORCID 0000-0002-9737-8127
Philipp HerrmannDepartment of Ophthalmology, University Hospital Bonn, Rheinische-Friedrich-Wilhelms Universität Bonn, Bonn, Germany.
Kaoru FujinamiLaboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
Juliana SallumDepartment of Ophthalmology and Visual Sciences, Escola Paulista de Medicina, Federal University of Sao Paulo, São Paulo, Brazil.ORCID 0000-0002-7206-4447
Savita MadhusudhanSt Paul's Eye Unit, The Royal Liverpool and Broadgreen University Hospitals, Liverpool, UK.
Susan M DownesOxford Eye Hospital, John Radcliffe Hospital, Oxford, UK.ORCID 0000-0001-7373-2665
Frank G HolzDepartment of Ophthalmology, University Hospital Bonn, Rheinische-Friedrich-Wilhelms Universität Bonn, Bonn, Germany.ORCID 0000-0001-8019-9272
Konstantinos BalaskasUniversity College London Institute of Ophthalmology, University College London, London, UK.ORCID 0000-0001-5679-4186
Andrew R WebsterUniversity College London Institute of Ophthalmology, University College London, London, UK.ORCID 0000-0001-6915-9560
Omar A MahrooUniversity College London Institute of Ophthalmology, University College London, London, UK.ORCID 0000-0003-1254-0832
Peter M KrawitzInstitute for Genomic Statistic and Bioinformatics, University Hospital Bonn, Rheinische-Friedrich-Wilhelms University, Bonn, Germany.ORCID 0000-0002-3194-8625
Michel MichaelidesUniversity College London Institute of Ophthalmology, University College London, London, UK.ORCID 0000-0002-1552-7046
Funding
Translational pharmacoepidemiology: neuroprotection and neurotoxicity of antihypertensives and strong anticholinergicsU19AG066567 · NIA · KAISER FOUNDATION RESEARCH INSTITUTE · PI Pamela A Shaw · 2021 to 2026
$80.4MBridge2AI:Salutogenesis Data Generation ProjectOT2OD032644 · OD · WASHINGTON UNIVERSITY · PI BAXTER, SALLY LIU, CHUTE, CHRISTOPHER G · 2022 to 2025
$32.7MEpidemiology and clinical outcomes of diabetic macular edemaK23EY029246 · NEI · UNIVERSITY OF WASHINGTON · PI LEE, AARON · 2018 to 2022
$1.1MNEI NIH HHS K23 EY029246NIA NIH HHS U19 AG066567NIH HHS OT2 OD032644Wellcome Trust
Abstract
Rare eye diseases such as inherited retinal diseases (IRDs) are challenging to diagnose genetically. IRDs are typically monogenic disorders and represent a leading cause of blindness in children and working-age adults worldwide. A growing number are now being targeted in clinical trials, with approved treatments increasingly available. However, access requires a genetic diagnosis to be established sufficiently early. Critically, the timely identification of a genetic cause remains challenging. We demonstrate that a deep learning algorithm, Eye2Gene, trained on a large multimodal imaging dataset of individuals with IRDs (
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Genetic testingImage processingMolecular medicineRetinal diseases
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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.